Y14S (p.Tyr14Ser) variant of DLG4 (Disks large homolog 4)
Y14S (p.Tyr14Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y14S (p.Tyr14Ser) variant details
- p.Tyr14Ser
- ExAC rs767412117
- TOPMed rs767412117
- gnomAD rs767412117
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.593