A96G (p.Ala96Gly) variant of NRXN2 (Neurexin-2)
A96G (p.Ala96Gly) in NRXN2 (Neurexin-2) 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 0.36 / 1. The record also includes population frequency data and structural context.
A96G (p.Ala96Gly) variant details
- p.Ala96Gly
- ExAC rs751385058
- TOPMed rs751385058
- gnomAD rs751385058
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.83
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available