R59S (p.Arg59Ser) variant of NLGN4X (Neuroligin-4, X-linked)
R59S (p.Arg59Ser) 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 0.47 / 1. The record also includes structural context.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- rs2147702376
- ClinGen CA412015302
- ClinVar RCV002267315
- Ensembl rs2147702376
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.45
- MetaLR 0.28
- MetaSVM -0.82
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available