S277L (p.Ser277Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S277L (p.Ser277Leu) 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 in the context of Congenital long QT syndrome; Long QT syndrome 1; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
S277L (p.Ser277Leu) variant details
- p.Ser277Leu
- rs199472730
- ClinGen CA008437
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99327
- Pathogenic
- Congenital long QT syndrome; Long QT syndrome 1; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 31.00
- ClinVar: Pathogenic (Congenital long QT syndrome; Long QT syndrome 1; Cardiac arrhyth)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. (PMID 12442276)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)