V30I (p.Val30Ile) variant of EPHA3 (Ephrin type-A receptor 3)
V30I (p.Val30Ile) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- gnomAD 3-89107836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.20
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available