C3G (p.Cys3Gly) variant of EPHA3 (Ephrin type-A receptor 3)
C3G (p.Cys3Gly) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C3G (p.Cys3Gly) variant details
- p.Cys3Gly
- ExAC rs775889890
- gnomAD rs775889890
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.48
- Population evidence available
- Structural context available