E196K (p.Glu196Lys) variant of DLG4 (Disks large homolog 4)
E196K (p.Glu196Lys) 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 0.54 / 1. The record also includes population frequency data and structural context.
E196K (p.Glu196Lys) variant details
- p.Glu196Lys
- NCI-TCGA Cosmic COSV5724
- cosmic curated COSV57240
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.34
- CADD 28.00
- PolyPhen-2 0.84
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available