T19M (p.Thr19Met) variant of DLG4 (Disks large homolog 4)
T19M (p.Thr19Met) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T19M (p.Thr19Met) variant details
- p.Thr19Met
- cosmic curated COSV57240
- ExAC rs750562912
- TOPMed rs750562912
- gnomAD rs750562912
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.13
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.158