V76A (p.Val76Ala) variant of KRT2 (P35908)
V76A (p.Val76Ala) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V76A (p.Val76Ala) variant details
- p.Val76Ala
- ExAC rs763900507
- gnomAD rs763900507
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available