G30W (p.Gly30Trp) variant of NRXN1 (Neurexin-1)
G30W (p.Gly30Trp) 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 0.65 / 1. The record also includes population frequency data and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- ExAC rs752126111
- TOPMed rs752126111
- gnomAD rs752126111
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.56
- CADD 26.70
- PolyPhen-2 0.44
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available