P7S (p.Pro7Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7S (p.Pro7Ser) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs199473443
- ClinGen CA006651
- ClinVar RCV000057653
- ClinVar RCV000454712
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.69
- CADD 16.90
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 1; Jervell and Lange-)
- EBI: Benign (in LQT1)
- UniProt: Benign (in LQT1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)