E58D (p.Glu58Asp) variant of DLG4 (Disks large homolog 4)
E58D (p.Glu58Asp) 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.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- ExAC rs745800686
- TOPMed rs745800686
- gnomAD rs745800686
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- CADD 15.10
- PolyPhen-2 0.05
- SIFT 0.81
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.751