P564S (p.Pro564Ser) variant of DLG4 (Disks large homolog 4)
P564S (p.Pro564Ser) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P564S (p.Pro564Ser) variant details
- p.Pro564Ser
- rs2507922013
- cosmic curated COSV10513
- ClinGen CA397714990
- ClinVar RCV002470176
- Likely pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.36
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual developmental disorder 62)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)