K82Q (p.Lys82Gln) variant of NLGN3 (Neuroligin-3)
K82Q (p.Lys82Gln) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
K82Q (p.Lys82Gln) variant details
- p.Lys82Gln
- rs2092377179
- ClinGen CA413547707
- ClinVar RCV001251852
- Ensembl rs2092377179
- Likely benign
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.25
- MetaLR 0.25
- MetaSVM -0.73
- PolyPhen-2 0.52
- SIFT 0.15
- EVE 0.19
- ClinVar: Likely benign (Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- 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)