G2W (p.Gly2Trp) variant of NRXN1 (Neurexin-1)
G2W (p.Gly2Trp) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- cosmic curated COSV68003
- TOPMed rs867477898
- gnomAD rs867477898
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.22
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available