H50Y (p.His50Tyr) variant of EPHA3 (Ephrin type-A receptor 3)
H50Y (p.His50Tyr) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- gnomAD 3-89127268-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available