I45F (p.Ile45Phe) variant of EPHA3 (Ephrin type-A receptor 3)
I45F (p.Ile45Phe) in EPHA3 (Ephrin type-A receptor 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I45F (p.Ile45Phe) variant details
- p.Ile45Phe
- NCI-TCGA TCGA novel
- TOPMed rs1704114496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available