C13del (p.Cys13del) variant of EPHA3 (Ephrin type-A receptor 3)
C13del (p.Cys13del) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C13del (p.Cys13del) variant details
- gnomAD 3-89107782-AGCT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available