G34D (p.Gly34Asp) variant of NRXN2 (Neurexin-2)
G34D (p.Gly34Asp) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- Ensembl rs2057164268
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available