G56R (p.Gly56Arg) variant of DLG4 (Disks large homolog 4)
G56R (p.Gly56Arg) 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 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5723
- cosmic curated COSV57237
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.85
- CADD 27.40
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -1.03