G129C (p.Gly129Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
G129C (p.Gly129Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G129C (p.Gly129Cys) variant details
- p.Gly129Cys
- TOPMed rs1939623572
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.46
- CADD 22.50
- PolyPhen-2 0.96
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available