T9N (p.Thr9Asn) variant of DLG4 (Disks large homolog 4)
T9N (p.Thr9Asn) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T9N (p.Thr9Asn) variant details
- p.Thr9Asn
- rs2508170756
- ClinGen CA397721172
- ClinVar RCV002644724
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.129
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)