T19A (p.Thr19Ala) variant of DLG4 (Disks large homolog 4)
T19A (p.Thr19Ala) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- cosmic curated COSV10731
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.158