G104D (p.Gly104Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G104D (p.Gly104Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G104D (p.Gly104Asp) variant details
- p.Gly104Asp
- TOPMed rs1328783622
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.57
- CADD 18.60
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available