R145H (p.Arg145His) variant of DLG4 (Disks large homolog 4)
R145H (p.Arg145His) 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 and structural context.
R145H (p.Arg145His) variant details
- p.Arg145His
- rs1334906542
- cosmic curated COSV10459
- TOPMed rs1334906542
- gnomAD rs1334906542
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.16
- CADD 24.50
- PolyPhen-2 0.31
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available