S566F (p.Ser566Phe) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S566F (p.Ser566Phe) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; KCQ1-related disorders; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S566F (p.Ser566Phe) variant details
- p.Ser566Phe
- rs199472804
- ClinGen CA006211
- cosmic curated COSV50104
- ClinVar RCV000046015
- Pathogenic/Likely pathogenic
- not provided; KCQ1-related disorders; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.03
- CADD 27.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; KCQ1-related disorders; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)