R70K (p.Arg70Lys) variant of DLG4 (Disks large homolog 4)
R70K (p.Arg70Lys) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DLG4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R70K (p.Arg70Lys) variant details
- p.Arg70Lys
- rs2508034347
- ClinGen CA397720203
- ClinVar RCV003408313
- Uncertain significance
- DLG4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.22
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.32
- ClinVar: Uncertain significance (DLG4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.151