V41F (p.Val41Phe) variant of KCNH2 (hERG)
V41F (p.Val41Phe) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- rs199472835
- ClinGen CA004285
- ClinVar RCV000057874
- UniProt VAR 074769
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.84
- MetaLR 0.91
- MetaSVM 0.88
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.72
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)