G71C (p.Gly71Cys) variant of KRT4 (Keratin, type II cytoskeletal 4)
G71C (p.Gly71Cys) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G71C (p.Gly71Cys) variant details
- p.Gly71Cys
- 1000Genomes rs201431252
- ESP rs201431252
- ExAC rs201431252
- TOPMed rs201431252
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.51
- CADD 28.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available