G188R (p.Gly188Arg) variant of NLGN3 (Neuroligin-3)
G188R (p.Gly188Arg) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Autism, susceptibility to, X-linked 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G188R (p.Gly188Arg) variant details
- p.Gly188Arg
- cosmic curated COSV62443
- gnomAD rs1247087777
- Likely pathogenic
- Autism, susceptibility to, X-linked 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Likely pathogenic (Autism, susceptibility to, X-linked 1)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available