A52V (p.Ala52Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
A52V (p.Ala52Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- ExAC rs773410009
- TOPMed rs773410009
- gnomAD rs773410009
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.13
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available