V47F (p.Val47Phe) variant of KCNE1 (P15382)
V47F (p.Val47Phe) in KCNE1 (P15382) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V47F (p.Val47Phe) variant details
- p.Val47Phe
- rs199473353
- ClinGen CA331916
- ClinVar RCV000119065
- ClinVar RCV004777578
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.64
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in JLNS2)
- UniProt: Pathogenic (in JLNS2)
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Cited in: Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. (PMID 10400998)
- Cited in: Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis… (PMID 21676880)