R87W (p.Arg87Trp) variant of NLGN4X (Neuroligin-4, X-linked)
R87W (p.Arg87Trp) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R87W (p.Arg87Trp) variant details
- p.Arg87Trp
- rs2519421979
- ClinGen CA412015129
- ClinVar RCV003324931
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.89
- MetaLR 0.81
- MetaSVM 0.68
- CADD 17.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available