V38L (p.Val38Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V38L (p.Val38Leu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ExAC rs757013535
- TOPMed rs757013535
- gnomAD rs757013535
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available