D17Y (p.Asp17Tyr) variant of EPHA3 (Ephrin type-A receptor 3)
D17Y (p.Asp17Tyr) in EPHA3 (Ephrin type-A receptor 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- 1000Genomes rs201110271
- ExAC rs201110271
- TOPMed rs201110271
- gnomAD rs201110271
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0573
- REVEL 0.06
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available