D17E (p.Asp17Glu) variant of EPHA3 (Ephrin type-A receptor 3)
D17E (p.Asp17Glu) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- TOPMed rs1194741028
- gnomAD rs1194741028
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- CADD 6.96
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available