E52* (p.Glu52Ter) variant of NRXN2 (Neurexin-2)
E52* (p.Glu52Ter) 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.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- TOPMed rs1011274314
- gnomAD rs1011274314
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 35.00
- Population evidence available
- Structural context available