G14D (p.Gly14Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G14D (p.Gly14Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- ExAC rs761496103
- TOPMed rs761496103
- gnomAD rs761496103
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available