G84R (p.Gly84Arg) variant of NLGN4X (Neuroligin-4, X-linked)
G84R (p.Gly84Arg) 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 0.69 / 1. The record also includes population frequency data and structural context.
G84R (p.Gly84Arg) variant details
- p.Gly84Arg
- rs746858063
- ClinGen CA241778
- cosmic curated COSV10499
- ClinVar RCV000175929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.71
- MetaLR 0.72
- MetaSVM 0.69
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available