R752Q (p.Arg752Gln) variant of KCNH2 (hERG)
R752Q (p.Arg752Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R752Q (p.Arg752Gln) variant details
- p.Arg752Gln
- rs121912512
- ClinGen CA006389
- cosmic curated COSV51137
- ClinVar RCV000015516
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 18.7
- Cited in: Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT… (PMID 12621127)
- Cited in: Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. (PMID 9600240)