D2A (p.Asp2Ala) variant of EPHA3 (Ephrin type-A receptor 3)
D2A (p.Asp2Ala) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D2A (p.Asp2Ala) variant details
- p.Asp2Ala
- TOPMed rs1707005525
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.29
- CADD 25.10
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available