G59E (p.Gly59Glu) variant of DLG4 (Disks large homolog 4)
G59E (p.Gly59Glu) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- TOPMed rs1253688873
- gnomAD rs1253688873
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.39
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.509