G53S (p.Gly53Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G53S (p.Gly53Ser) 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 0.26 / 1. The record also includes population frequency data.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- TOPMed rs531316453
- gnomAD rs531316453
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 14.50
- PolyPhen-2 0.06
- SIFT 0.30
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)