T613M (p.Thr613Met) variant of KCNH2 (hERG)
T613M (p.Thr613Met) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNH2-related disorder; Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T613M (p.Thr613Met) variant details
- p.Thr613Met
- rs199473524
- ClinGen CA005647
- NCI-TCGA Cosmic COSV5123
- cosmic curated COSV51233
- Pathogenic/Likely pathogenic
- KCNH2-related disorder; Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (KCNH2-related disorder; Cardiovascular phenotype; Long QT syndro)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. (PMID 10220144)
- Cited in: Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid… (PMID 10862094)