V178I (p.Val178Ile) variant of DLG4 (Disks large homolog 4)
V178I (p.Val178Ile) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data.
V178I (p.Val178Ile) variant details
- p.Val178Ile
- ExAC rs778679470
- TOPMed rs778679470
- gnomAD rs778679470
- Uncertain significance
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.07
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.52
- ClinVar: Uncertain significance (Intellectual developmental disorder 62)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)