G54D (p.Gly54Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G54D (p.Gly54Asp) in KRT13 (Keratin, type I cytoskeletal 13) 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.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- ExAC rs781005051
- TOPMed rs781005051
- gnomAD rs781005051
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.74
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available