G4R (p.Gly4Arg) variant of NRXN2 (Neurexin-2)
G4R (p.Gly4Arg) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1050157194
- ClinGen CA223881905
- ClinVar RCV004346527
- TOPMed rs1050157194
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 17.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available