I7L (p.Ile7Leu) variant of EPHA3 (Ephrin type-A receptor 3)
I7L (p.Ile7Leu) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I7L (p.Ile7Leu) variant details
- p.Ile7Leu
- ExAC rs751989411
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.07
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Structural context available