G198S (p.Gly198Ser) variant of DLG4 (Disks large homolog 4)
G198S (p.Gly198Ser) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
G198S (p.Gly198Ser) variant details
- p.Gly198Ser
- rs1326420629
- ClinGen CA397718856
- ClinVar RCV001800195
- gnomAD rs1326420629
- Uncertain significance
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.41
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual developmental disorder 62)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)