G130S (p.Gly130Ser) variant of NRXN2 (Neurexin-2)
G130S (p.Gly130Ser) in NRXN2 (Neurexin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G130S (p.Gly130Ser) variant details
- p.Gly130Ser
- rs774679959
- ExAC rs774679959
- TOPMed rs774679959
- gnomAD rs774679959
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.37
- MetaLR 0.50
- MetaSVM -0.11
- CADD 23.50
- PolyPhen-2 0.73
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available