Y54H (p.Tyr54His) variant of KRT8 (Keratin, type II cytoskeletal 8)
Y54H (p.Tyr54His) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; Hepatitis C virus, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- rs57749775
- ClinGen CA124165
- ClinVar RCV000015737
- ClinVar RCV000056936
- Benign
- not specified; Hepatitis C virus, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Benign (not specified; Hepatitis C virus, susceptibility to)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Cited in: Keratin 8 mutations in patients with cryptogenic liver disease. (PMID 11372009)
- Cited in: Keratin 8 Y54H and G62C mutations are not associated with liver disease. (PMID 15235035)