G64V (p.Gly64Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
G64V (p.Gly64Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- ExAC rs754317054
- gnomAD rs754317054
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.27
- CADD 21.90
- PolyPhen-2 0.93
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available