G2R (p.Gly2Arg) variant of NRXN1 (Neurexin-1)
G2R (p.Gly2Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs867477898
- ClinGen CA346824900
- ClinVar RCV003818950
- TOPMed rs867477898
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.22
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available