A4G (p.Ala4Gly) variant of NRXN1 (Neurexin-1)
A4G (p.Ala4Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- gnomAD rs1198368082
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.18
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available