G54D (p.Gly54Asp) variant of KRT10 (Keratin, type I cytoskeletal 10)
G54D (p.Gly54Asp) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- ExAC rs764984381
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)