P37T (p.Pro37Thr) variant of DLG4 (Disks large homolog 4)
P37T (p.Pro37Thr) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P37T (p.Pro37Thr) variant details
- p.Pro37Thr
- ExAC rs758437498
- gnomAD rs758437498
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.724