Y147C (p.Tyr147Cys) variant of DLG4 (Disks large homolog 4)
Y147C (p.Tyr147Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
Y147C (p.Tyr147Cys) variant details
- p.Tyr147Cys
- NCI-TCGA TCGA novel
- Ensembl rs2070272854
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.17
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available