Y50F (p.Tyr50Phe) variant of DLG4 (Disks large homolog 4)
Y50F (p.Tyr50Phe) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y50F (p.Tyr50Phe) variant details
- p.Tyr50Phe
- ExAC rs754400138
- TOPMed rs754400138
- gnomAD rs754400138
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -1.01