E41K (p.Glu41Lys) variant of EPHA3 (Ephrin type-A receptor 3)
E41K (p.Glu41Lys) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- cosmic curated COSV10590
- ESP rs374211029
- ExAC rs374211029
- TOPMed rs374211029
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.50
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available