G117V (p.Gly117Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G117V (p.Gly117Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G117V (p.Gly117Val) variant details
- p.Gly117Val
- TOPMed rs1411763179
- gnomAD rs1411763179
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.77
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available