D17N (p.Asp17Asn) variant of EPHA3 (Ephrin type-A receptor 3)
D17N (p.Asp17Asn) 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 0.05 / 1. The record also includes population frequency data and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- 1000Genomes rs201110271
- ExAC rs201110271
- TOPMed rs201110271
- gnomAD rs201110271
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.049
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available