R110C (p.Arg110Cys) variant of DLG4 (Disks large homolog 4)
R110C (p.Arg110Cys) 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 0.57 / 1. The record also includes population frequency data and structural context.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- NCI-TCGA Cosmic COSV5723
- cosmic curated COSV57239
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.40
- CADD 29.30
- PolyPhen-2 1.00
- 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