G34S (p.Gly34Ser) variant of NRXN2 (Neurexin-2)
G34S (p.Gly34Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs1434434360
- TOPMed rs1434434360
- gnomAD rs1434434360
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 21.80
- PolyPhen-2 0.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available