D837G (p.Asp837Gly) variant of KCNH2 (hERG)
D837G (p.Asp837Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D837G (p.Asp837Gly) variant details
- p.Asp837Gly
- rs199473004
- ClinGen CA006888
- ClinVar RCV000058131
- ClinVar RCV000181873
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)