I39V (p.Ile39Val) variant of DLG4 (Disks large homolog 4)
I39V (p.Ile39Val) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- TOPMed rs1457784229
- gnomAD rs1457784229
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.11
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.867