V158F (p.Val158Phe) variant of DLG4 (Disks large homolog 4)
V158F (p.Val158Phe) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
V158F (p.Val158Phe) variant details
- p.Val158Phe
- TOPMed rs1484512483
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.76
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)