G51E (p.Gly51Glu) variant of EPHA3 (Ephrin type-A receptor 3)
G51E (p.Gly51Glu) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- gnomAD 3-89127272-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available