G18D (p.Gly18Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G18D (p.Gly18Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- 1000Genomes rs2144508939
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available