E46D (p.Glu46Asp) variant of DLG4 (Disks large homolog 4)
E46D (p.Glu46Asp) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- NCI-TCGA Cosmic COSV5723
- cosmic curated COSV57237
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 21.50
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.18