G53D (p.Gly53Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G53D (p.Gly53Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- 1000Genomes rs531100926
- ExAC rs531100926
- TOPMed rs531100926
- gnomAD rs531100926
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.46
- CADD 13.90
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available