G53R (p.Gly53Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
G53R (p.Gly53Arg) 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 0.29 / 1. The record also includes population frequency data.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- TOPMed rs531316453
- gnomAD rs531316453
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 19.40
- PolyPhen-2 0.09
- SIFT 0.08
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)