R88G (p.Arg88Gly) variant of NRXN2 (Neurexin-2)
R88G (p.Arg88Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R88G (p.Arg88Gly) variant details
- p.Arg88Gly
- ExAC rs781507844
- gnomAD rs781507844
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.47
- MetaLR 0.42
- MetaSVM -0.26
- CADD 27.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available