R133L (p.Arg133Leu) variant of NRXN2 (Neurexin-2)
R133L (p.Arg133Leu) 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.
R133L (p.Arg133Leu) variant details
- p.Arg133Leu
- Ensembl rs2135675508
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.68
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available