N34S (p.Asn34Ser) variant of DLG4 (Disks large homolog 4)
N34S (p.Asn34Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- ExAC rs746846985
- TOPMed rs746846985
- gnomAD rs746846985
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.126