T44I (p.Thr44Ile) variant of DLG4 (Disks large homolog 4)
T44I (p.Thr44Ile) 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.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- gnomAD rs1161910829
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -1.02