E79D (p.Glu79Asp) variant of NRXN2 (Neurexin-2)
E79D (p.Glu79Asp) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- TOPMed rs868408292
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.55
- MetaLR 0.56
- MetaSVM 0.14
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available