G62C (p.Gly62Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
G62C (p.Gly62Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
G62C (p.Gly62Cys) variant details
- p.Gly62Cys
- rs11554495
- ClinGen CA124163
- cosmic curated COSV99035
- ClinVar RCV000015735
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 22.20
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Keratin 8 mutations in patients with cryptogenic liver disease. (PMID 11372009)
- Cited in: Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID 12724528)