I39T (p.Ile39Thr) variant of DLG4 (Disks large homolog 4)
I39T (p.Ile39Thr) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- TOPMed rs1425387906
- gnomAD rs1425387906
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.867