E64K (p.Glu64Lys) variant of DLG4 (Disks large homolog 4)
E64K (p.Glu64Lys) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.39
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.0621