G79E (p.Gly79Glu) variant of KRT2 (P35908)
G79E (p.Gly79Glu) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G79E (p.Gly79Glu) variant details
- p.Gly79Glu
- TOPMed rs1941258500
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.48
- CADD 18.10
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available