G589S (p.Gly589Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G589S (p.Gly589Ser) 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 Cardiac arrhythmia; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G589S (p.Gly589Ser) variant details
- p.Gly589Ser
- rs780676796
- ClinGen CA032686
- NCI-TCGA Cosmic COSV5012
- ClinVar RCV001233933
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.08
- CADD 24.80
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not specified)
- EBI: Likely pathogenic (in LQT1 and JLNS1)
- UniProt: Likely pathogenic (in LQT1 and JLNS1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)