G71S (p.Gly71Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G71S (p.Gly71Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- TOPMed rs1301274244
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.30
- CADD 8.52
- PolyPhen-2 0.98
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available