V178L (p.Val178Leu) variant of DLG4 (Disks large homolog 4)
V178L (p.Val178Leu) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
V178L (p.Val178Leu) variant details
- p.Val178Leu
- ExAC rs778679470
- TOPMed rs778679470
- gnomAD rs778679470
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.03
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)