G42C (p.Gly42Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
G42C (p.Gly42Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- TOPMed rs1349921419
- gnomAD rs1349921419
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 23.70
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)