A48G (p.Ala48Gly) variant of NRXN2 (Neurexin-2)
A48G (p.Ala48Gly) 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 0.32 / 1. The record also includes population frequency data and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- ExAC rs748751882
- TOPMed rs748751882
- gnomAD rs748751882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -0.97
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available