V204A (p.Val204Ala) variant of NLGN3 (Neuroligin-3)
V204A (p.Val204Ala) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autism, susceptibility to, X-linked 1. The record also includes structural context.
V204A (p.Val204Ala) variant details
- p.Val204Ala
- rs2519748934
- ClinGen CA413552311
- ClinVar RCV002291239
- Pathogenic
- Autism, susceptibility to, X-linked 1
- Missense
- ClinVar: Pathogenic (Autism, susceptibility to, X-linked 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available