G47V (p.Gly47Val) variant of KCNH2 (hERG)
G47V (p.Gly47Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short QT syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- rs199473490
- ClinGen CA004581
- ClinVar RCV000057903
- ClinVar RCV002247456
- Pathogenic
- Short QT syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.79
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (Short QT syndrome type 1)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 74.5
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)