A19V (p.Ala19Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
A19V (p.Ala19Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ExAC rs750392549
- TOPMed rs750392549
- gnomAD rs750392549
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available