S50N (p.Ser50Asn) variant of NRXN2 (Neurexin-2)
S50N (p.Ser50Asn) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- ExAC rs774928292
- gnomAD rs774928292
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.89
- CADD 15.90
- PolyPhen-2 0.13
- SIFT 0.34
- Population evidence available
- Structural context available