G40V (p.Gly40Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G40V (p.Gly40Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- ExAC rs749140215
- TOPMed rs749140215
- gnomAD rs749140215
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available