A48G (p.Ala48Gly) variant of NRXN1 (Neurexin-1)
A48G (p.Ala48Gly) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- rs1202743952
- ClinGen CA346824613
- ClinVar RCV001209681
- ClinVar RCV004792799
- Uncertain significance
- Pitt-Hopkins-like syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.07
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available