G56W (p.Gly56Trp) variant of DLG4 (Disks large homolog 4)
G56W (p.Gly56Trp) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G56W (p.Gly56Trp) variant details
- p.Gly56Trp
- cosmic curated COSV10026
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -1.03