R586Q (p.Arg586Gln) variant of DLG4 (Disks large homolog 4)
R586Q (p.Arg586Gln) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature.
R586Q (p.Arg586Gln) variant details
- p.Arg586Gln
- rs2142821925
- ClinGen CA397714832
- cosmic curated COSV57238
- ClinVar RCV001800210
- Pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.88
- MetaLR 0.12
- MetaSVM -0.92
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.66
- ClinVar: Pathogenic (Intellectual developmental disorder 62)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)