R594P (p.Arg594Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R594P (p.Arg594Pro) 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 Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R594P (p.Arg594Pro) variant details
- p.Arg594Pro
- rs199472815
- ClinGen CA006395
- ClinVar RCV000046032
- ClinVar RCV000057638
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- 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: Long QT Syndrome Overview. (PMID 20301308)