T587M (p.Thr587Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
T587M (p.Thr587Met) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T587M (p.Thr587Met) variant details
- p.Thr587Met
- rs120074189
- ClinGen CA006328
- ClinVar RCV000003286
- ClinVar RCV000046026
- Pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.07
- CADD 22.50
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. (PMID 10024302)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)