R133C (p.Arg133Cys) variant of NRXN2 (Neurexin-2)
R133C (p.Arg133Cys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R133C (p.Arg133Cys) variant details
- p.Arg133Cys
- gnomAD rs2057125564
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.54
- MetaLR 0.46
- MetaSVM -0.21
- CADD 28.50
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available