V54M (p.Val54Met) variant of DLG4 (Disks large homolog 4)
V54M (p.Val54Met) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- TOPMed rs1287207876
- gnomAD rs1287207876
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.879