G50D (p.Gly50Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G50D (p.Gly50Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- ExAC rs752219630
- TOPMed rs752219630
- gnomAD rs752219630
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.19
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available