S43G (p.Ser43Gly) variant of KRT8 (Keratin, type II cytoskeletal 8)
S43G (p.Ser43Gly) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- TOPMed rs923432670
- gnomAD rs923432670
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00041)