E196D (p.Glu196Asp) variant of DLG4 (Disks large homolog 4)
E196D (p.Glu196Asp) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E196D (p.Glu196Asp) variant details
- p.Glu196Asp
- TOPMed rs2070252417
- gnomAD rs2070252417
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available