V7L (p.Val7Leu) variant of DLG4 (Disks large homolog 4)
V7L (p.Val7Leu) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- TOPMed rs2070954028
- gnomAD rs2070954028
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.09
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.445