V49G (p.Val49Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
V49G (p.Val49Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V49G (p.Val49Gly) variant details
- p.Val49Gly
- ExAC rs760876234
- gnomAD rs760876234
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available