G110C (p.Gly110Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
G110C (p.Gly110Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G110C (p.Gly110Cys) variant details
- p.Gly110Cys
- ExAC rs776973006
- TOPMed rs776973006
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.51
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available