T13I (p.Thr13Ile) variant of KCNH2 (hERG)
T13I (p.Thr13Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- rs758978727
- ClinGen CA369866717
- ClinVar RCV003648803
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.50
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 122
- 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)