G46S (p.Gly46Ser) variant of NRXN2 (Neurexin-2)
G46S (p.Gly46Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- rs768737747
- ExAC rs768737747
- gnomAD rs768737747
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.87
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available