A0A2R8YF84 · A0A2R8YF84_HUMAN
- ProteinSuccinate-CoA ligase ADP-forming subunit beta
- GeneSUCLA2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs922792158 | 2 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) Somatic: No Accession: NC_000013.11:g.47996935C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996935C>T Locations: - p.Ser2Asn (Ensembl:ENST00000643246) - c.5G>A (Ensembl:ENST00000643246) Source type: large scale study Cross-references: | |||||||
rs1384188576 | 3 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) Somatic: No Accession: NC_000013.11:g.47996932A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996932A>G Locations: - p.Met3Thr (Ensembl:ENST00000643246) - c.8T>C (Ensembl:ENST00000643246) Source type: large scale study Cross-references: | |||||||
COSV66222260 rs1950196315 | 3 | M>V | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) Somatic: Yes Accession: NC_000013.11:g.47996933T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996933T>C Locations: - p.Met3Val (Ensembl:ENST00000643246) - c.7A>G (Ensembl:ENST00000643246) Source type: large scale study | |||||||
rs770129860 | 4 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) Somatic: No Accession: NC_000013.11:g.47996929T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996929T>A Locations: - p.Glu4Val (Ensembl:ENST00000643246) - c.11A>T (Ensembl:ENST00000643246) Source type: large scale study Cross-references: | |||||||
RCV001090331 rs1950196208 | 6 | L>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) Somatic: No Accession: NC_000013.11:g.47996923A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996923A>G Locations: - p.Leu6Ser (Ensembl:ENST00000643246) - c.17T>C (Ensembl:ENST00000643246) Source type: large scale study | |||||||
rs1950196154 | 7 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) Somatic: No Accession: NC_000013.11:g.47996920T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996920T>A Locations: - p.Gln7Leu (Ensembl:ENST00000643246) - c.20A>T (Ensembl:ENST00000643246) Source type: large scale study Cross-references: | |||||||
rs1382806595 | 8 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) Somatic: No Accession: NC_000013.11:g.47996917T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996917T>C Locations: - p.Glu8Gly (Ensembl:ENST00000643246) - c.23A>G (Ensembl:ENST00000643246) Source type: large scale study Cross-references: | |||||||
rs1950196102 | 9 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) Somatic: No Accession: NC_000013.11:g.47996914G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q14.2 Genomic location: NC_000013.11:g.47996914G>A Locations: - p.Ala9Val (Ensembl:ENST00000643246) - c.26C>T (Ensembl:ENST00000643246) Source type: large scale study Cross-references: |