G53D (p.Gly53Asp) variant of KRT8 (Keratin, type II cytoskeletal 8)
G53D (p.Gly53Asp) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- ExAC rs61710484
- TOPMed rs61710484
- gnomAD rs61710484
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)