R43H (p.Arg43His) variant of NRXN2 (Neurexin-2)
R43H (p.Arg43His) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- TOPMed rs2057160541
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.44
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.02
- Population evidence available
- Structural context available