Y190C (p.Tyr190Cys) variant of DLG4 (Disks large homolog 4)
Y190C (p.Tyr190Cys) 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 0.69 / 1. The record also includes population frequency data.
Y190C (p.Tyr190Cys) variant details
- p.Tyr190Cys
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- gnomAD rs2070253586
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)