G177V (p.Gly177Val) variant of DLG4 (Disks large homolog 4)
G177V (p.Gly177Val) 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 0.69 / 1. The record also includes population frequency data and published literature.
G177V (p.Gly177Val) variant details
- p.Gly177Val
- rs2142884433
- ClinGen CA397718996
- ClinVar RCV001754561
- Ensembl rs2142884433
- Pathogenic/Likely pathogenic
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.61
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual developmental disorder 62)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)