R582C (p.Arg582Cys) variant of KCNH2 (hERG)
R582C (p.Arg582Cys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R582C (p.Arg582Cys) variant details
- p.Arg582Cys
- rs121912508
- ClinGen CA005345
- NCI-TCGA Cosmic COSV5122
- cosmic curated COSV51220
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.79
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 88.6
- Cited in: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. (PMID 10220144)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)