T17P (p.Thr17Pro) variant of KCNH2 (hERG)
T17P (p.Thr17Pro) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; Cardiovascular phenotype. The record also includes experimental measurements, published literature, and structural context.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- rs2486167222
- ClinGen CA369866687
- ClinVar RCV004007961
- ClinVar RCV005587559
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 110
- 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)