H50Q (p.His50Gln) variant of EPHA3 (Ephrin type-A receptor 3)
H50Q (p.His50Gln) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H50Q (p.His50Gln) variant details
- p.His50Gln
- gnomAD 3-89127270-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- CADD 20.40
- PolyPhen-2 0.98
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available