I45M (p.Ile45Met) variant of EPHA3 (Ephrin type-A receptor 3)
I45M (p.Ile45Met) 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 0.26 / 1. The record also includes population frequency data and structural context.
I45M (p.Ile45Met) variant details
- p.Ile45Met
- rs139262347
- ClinGen CA2502237
- ClinVar RCV004252293
- 1000Genomes rs139262347
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available