P131L (p.Pro131Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
P131L (p.Pro131Leu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P131L (p.Pro131Leu) variant details
- p.Pro131Leu
- ExAC rs771929106
- gnomAD rs771929106
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available