G197E (p.Gly197Glu) variant of DLG4 (Disks large homolog 4)
G197E (p.Gly197Glu) 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 0.59 / 1. The record also includes population frequency data and structural context.
G197E (p.Gly197Glu) variant details
- p.Gly197Glu
- NCI-TCGA Cosmic COSV5724
- cosmic curated COSV57242
- TOPMed rs1344403587
- gnomAD rs1344403587
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.45
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available