D186V (p.Asp186Val) variant of DLG4 (Disks large homolog 4)
D186V (p.Asp186Val) 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 0.47 / 1. The record also includes published literature and structural context.
D186V (p.Asp186Val) variant details
- p.Asp186Val
- rs2142884288
- ClinGen CA397718940
- ClinVar RCV001800194
- Ensembl rs2142884288
- Pathogenic/Likely pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (Intellectual developmental disorder 62)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)