E60D (p.Glu60Asp) variant of DLG4 (Disks large homolog 4)
E60D (p.Glu60Asp) 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.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- TOPMed rs1451040768
- gnomAD rs1451040768
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.61
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.456