E53D (p.Glu53Asp) variant of EPHA3 (Ephrin type-A receptor 3)
E53D (p.Glu53Asp) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- gnomAD 3-89209865-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available