I45V (p.Ile45Val) variant of EPHA3 (Ephrin type-A receptor 3)
I45V (p.Ile45Val) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- gnomAD 3-89127253-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.83
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available