G40W (p.Gly40Trp) variant of EPHA3 (Ephrin type-A receptor 3)
G40W (p.Gly40Trp) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G40W (p.Gly40Trp) variant details
- p.Gly40Trp
- gnomAD 3-89127238-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.54
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available