G9R (p.Gly9Arg) variant of NRXN1 (Neurexin-1)
G9R (p.Gly9Arg) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- rs1443893312
- TOPMed rs1443893312
- ClinGen CA346824863
- ClinVar RCV001904474
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 17.70
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-06)
- Structural context available