N31S (p.Asn31Ser) variant of DLG4 (Disks large homolog 4)
N31S (p.Asn31Ser) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- TOPMed rs1230103178
- gnomAD rs1230103178
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.08
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.767