P10668 · COF1_PIG
- ProteinCofilin-1
- GeneCFL1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids166 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs700582777 | 21 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_010444.4:g.6473597G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6473597G>A Locations: - p.Arg21His (Ensembl:ENSSSCT00000043957) - c.62G>A (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: | |||||||
rs690153659 | 108 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_010444.4:g.6474108G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6474108G>C Locations: - p.Cys108Ser (Ensembl:ENSSSCT00000043957) - c.323G>C (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: | |||||||
rs699788090 | 145 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_010444.4:g.6474426G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6474426G>T Locations: - p.Asp145Tyr (Ensembl:ENSSSCT00000043957) - c.433G>T (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: | |||||||
rs694979950 | 160 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_010444.4:g.6474472C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6474472C>A Locations: - p.Ser160Tyr (Ensembl:ENSSSCT00000043957) - c.479C>A (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: | |||||||
rs703133221 | 163 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_010444.4:g.6474480G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6474480G>A Locations: - p.Gly163Ser (Ensembl:ENSSSCT00000043957) - c.487G>A (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: | |||||||
rs708339116 | 165 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_010444.4:g.6474487C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_010444.4:g.6474487C>A Locations: - p.Pro165His (Ensembl:ENSSSCT00000043957) - c.494C>A (Ensembl:ENSSSCT00000043957) Source type: large scale study Cross-references: |