G124D (p.Gly124Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G124D (p.Gly124Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G124D (p.Gly124Asp) variant details
- p.Gly124Asp
- gnomAD rs1302586382
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.56
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available