D17H (p.Asp17His) variant of EPHA3 (Ephrin type-A receptor 3)
D17H (p.Asp17His) in EPHA3 (Ephrin type-A receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
D17H (p.Asp17His) variant details
- p.Asp17His
- rs201110271
- ClinGen CA2502202
- ClinVar RCV004239144
- 1000Genomes rs201110271
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0413
- REVEL 0.04
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available