P536L (p.Pro536Leu) variant of DLG4 (Disks large homolog 4)
P536L (p.Pro536Leu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
P536L (p.Pro536Leu) variant details
- p.Pro536Leu
- rs2142825745
- ClinGen CA397715172
- ClinVar RCV002274485
- Ensembl rs2142825745
- Likely pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 1.00
- MetaLR 0.11
- MetaSVM -0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.37
- ClinVar: Likely pathogenic (Intellectual developmental disorder 62)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)