A108G (p.Ala108Gly) variant of NLGN4X (Neuroligin-4, X-linked)
A108G (p.Ala108Gly) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A108G (p.Ala108Gly) variant details
- p.Ala108Gly
- rs2040156131
- ClinGen CA412014993
- ClinVar RCV002281450
- TOPMed rs2040156131
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.24
- CADD 16.50
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available