R63C (p.Arg63Cys) variant of NRXN2 (Neurexin-2)
R63C (p.Arg63Cys) 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.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- ExAC rs766431359
- gnomAD rs766431359
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.68
- MetaLR 0.46
- MetaSVM -0.08
- CADD 29.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available