R752W (p.Arg752Trp) variant of KCNH2 (hERG)
R752W (p.Arg752Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R752W (p.Arg752Trp) variant details
- p.Arg752Trp
- rs199472990
- ClinGen CA006383
- NCI-TCGA Cosmic COSV5125
- cosmic curated COSV51255
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.92
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 18.7
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)