V158L (p.Val158Leu) variant of DLG4 (Disks large homolog 4)
V158L (p.Val158Leu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
V158L (p.Val158Leu) variant details
- p.Val158Leu
- TOPMed rs1484512483
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)