E131* (p.Glu131Ter) variant of NRXN2 (Neurexin-2)
E131* (p.Glu131Ter) in NRXN2 (Neurexin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E131* (p.Glu131Ter) variant details
- p.Glu131Ter
- ExAC rs769052958
- TOPMed rs769052958
- gnomAD rs769052958
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 36.00
- Population evidence available
- Structural context available