I88T (p.Ile88Thr) variant of TOP2A (DNA topoisomerase 2-alpha)
I88T (p.Ile88Thr) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- rs796052143
- ClinGen CA204067
- ClinVar RCV000190129
- TOPMed rs796052143
- Likely benign
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.75
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)