R8W (p.Arg8Trp) variant of NRXN2 (Neurexin-2)
R8W (p.Arg8Trp) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- Ensembl rs2057173945
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.98
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.15
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available