T192R (p.Thr192Arg) variant of DLG4 (Disks large homolog 4)
T192R (p.Thr192Arg) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
T192R (p.Thr192Arg) variant details
- p.Thr192Arg
- Ensembl rs1567540933
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.36
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)