A133E (p.Ala133Glu) variant of DLG4 (Disks large homolog 4)
A133E (p.Ala133Glu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
A133E (p.Ala133Glu) variant details
- p.Ala133Glu
- rs982251458
- ClinGen CA397719515
- ClinVar RCV003219144
- Uncertain significance
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.13
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.90
- ClinVar: Uncertain significance (Intellectual developmental disorder 62)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)