G43V (p.Gly43Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G43V (p.Gly43Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- ExAC rs764877666
- TOPMed rs764877666
- gnomAD rs764877666
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.76
- CADD 24.30
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available