R119C (p.Arg119Cys) variant of NRXN2 (Neurexin-2)
R119C (p.Arg119Cys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R119C (p.Arg119Cys) variant details
- p.Arg119Cys
- gnomAD rs1489784813
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.86
- MetaLR 0.71
- MetaSVM 0.49
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available