C3W (p.Cys3Trp) variant of EPHA3 (Ephrin type-A receptor 3)
C3W (p.Cys3Trp) in EPHA3 (Ephrin type-A receptor 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C3W (p.Cys3Trp) variant details
- p.Cys3Trp
- gnomAD 3-89107755-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available