R55G (p.Arg55Gly) variant of NLGN3 (Neuroligin-3)
R55G (p.Arg55Gly) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
R55G (p.Arg55Gly) variant details
- p.Arg55Gly
- rs759137635
- ClinGen CA413547254
- ClinVar RCV001257609
- ExAC rs759137635
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.71
- MetaLR 0.42
- MetaSVM -0.27
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.70
- ClinVar: Uncertain significance (Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)