R122L (p.Arg122Leu) variant of NRXN2 (Neurexin-2)
R122L (p.Arg122Leu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R122L (p.Arg122Leu) variant details
- p.Arg122Leu
- Ensembl rs2057129996
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.52
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available