N28Y (p.Asn28Tyr) variant of EPHA3 (Ephrin type-A receptor 3)
N28Y (p.Asn28Tyr) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N28Y (p.Asn28Tyr) variant details
- p.Asn28Tyr
- gnomAD 3-89107830-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available