H50N (p.His50Asn) variant of EPHA3 (Ephrin type-A receptor 3)
H50N (p.His50Asn) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H50N (p.His50Asn) variant details
- p.His50Asn
- TOPMed rs993037877
- gnomAD rs993037877
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.95
- SIFT 1.00
- Population evidence available
- Structural context available