G53V (p.Gly53Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
G53V (p.Gly53Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- rs61710484
- ClinGen CA217260
- ClinVar RCV000056935
- UniProt VAR 023058
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 22.70
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID 12724528)