G71R (p.Gly71Arg) variant of KCNH2 (hERG)
G71R (p.Gly71Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs199473420
- ClinGen CA006261
- ClinVar RCV000058086
- ClinVar RCV000181935
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)