V158I (p.Val158Ile) variant of DLG4 (Disks large homolog 4)
V158I (p.Val158Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
V158I (p.Val158Ile) variant details
- p.Val158Ile
- rs1484512483
- ClinGen CA397719189
- ClinVar RCV002280027
- TOPMed rs1484512483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.05
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)