H50L (p.His50Leu) variant of EPHA3 (Ephrin type-A receptor 3)
H50L (p.His50Leu) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H50L (p.His50Leu) variant details
- p.His50Leu
- gnomAD 3-89127269-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available