G117C (p.Gly117Cys) variant of KRT2 (P35908)
G117C (p.Gly117Cys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G117C (p.Gly117Cys) variant details
- p.Gly117Cys
- 1000Genomes rs150026966
- ESP rs150026966
- ExAC rs150026966
- TOPMed rs150026966
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.49
- CADD 6.84
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available