G42C (p.Gly42Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G42C (p.Gly42Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- gnomAD rs1285382713
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.38
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available