G93C (p.Gly93Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G93C (p.Gly93Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G93C (p.Gly93Cys) variant details
- p.Gly93Cys
- gnomAD rs1307814081
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.56
- CADD 15.50
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available