I88V (p.Ile88Val) variant of DLG4 (Disks large homolog 4)
I88V (p.Ile88Val) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- CADD 18.30
- PolyPhen-2 0.06
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score 0.0393