G117D (p.Gly117Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G117D (p.Gly117Asp) in KRT3 (Keratin, type II cytoskeletal 3) 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.
G117D (p.Gly117Asp) variant details
- p.Gly117Asp
- gnomAD rs1939624937
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.47
- CADD 18.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available