T57I (p.Thr57Ile) variant of DLG4 (Disks large homolog 4)
T57I (p.Thr57Ile) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- rs200154740
- ClinGen CA8337270
- ClinVar RCV002985921
- ClinVar RCV003427646
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.84
- SIFT 0.06
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.109
- 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)