T611I (p.Thr611Ile) variant of DLG4 (Disks large homolog 4)
T611I (p.Thr611Ile) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
T611I (p.Thr611Ile) variant details
- p.Thr611Ile
- rs2142821651
- ClinGen CA397714647
- ClinVar RCV001800211
- Ensembl rs2142821651
- Pathogenic/Likely pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.28
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic/Likely pathogenic (Intellectual developmental disorder 62)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)