D2Y (p.Asp2Tyr) variant of EPHA3 (Ephrin type-A receptor 3)
D2Y (p.Asp2Tyr) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- ExAC rs770282917
- gnomAD rs770282917
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.30
- CADD 29.40
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available