G130C (p.Gly130Cys) variant of NRXN2 (Neurexin-2)
G130C (p.Gly130Cys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G130C (p.Gly130Cys) variant details
- p.Gly130Cys
- ExAC rs774679959
- TOPMed rs774679959
- gnomAD rs774679959
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.74
- MetaLR 0.64
- MetaSVM 0.30
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available