D18G (p.Asp18Gly) variant of DLG4 (Disks large homolog 4)
D18G (p.Asp18Gly) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- NCI-TCGA TCGA novel
- ExAC rs763066158
- TOPMed rs763066158
- gnomAD rs763066158
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.369