H50R (p.His50Arg) variant of EPHA3 (Ephrin type-A receptor 3)
H50R (p.His50Arg) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H50R (p.His50Arg) variant details
- p.His50Arg
- TOPMed rs1468754976
- gnomAD rs1468754976
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.08
- Population evidence available
- Structural context available