R123C (p.Arg123Cys) variant of NRXN2 (Neurexin-2)
R123C (p.Arg123Cys) 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.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- gnomAD rs2057129444
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.48
- MetaLR 0.46
- MetaSVM -0.25
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available