E21K (p.Glu21Lys) variant of EPHA3 (Ephrin type-A receptor 3)
E21K (p.Glu21Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- 1000Genomes rs141456190
- ESP rs141456190
- ExAC rs141456190
- TOPMed rs141456190
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.12
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available