G52D (p.Gly52Asp) variant of KRT9 (Keratin, type I cytoskeletal 9)
G52D (p.Gly52Asp) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- gnomAD rs1421476645
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.44
- CADD 18.10
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available