R122C (p.Arg122Cys) variant of NRXN2 (Neurexin-2)
R122C (p.Arg122Cys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R122C (p.Arg122Cys) variant details
- p.Arg122Cys
- gnomAD rs1394563054
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.69
- MetaLR 0.59
- MetaSVM 0.21
- CADD 26.40
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available