S910L (p.Ser910Leu) variant of SCN5A (Nav1.5)
S910L (p.Ser910Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long QT syndrome 3; Dilated cardiomyopathy 1E; Progressive familial heart block. 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.
S910L (p.Ser910Leu) variant details
- p.Ser910Leu
- rs199473175
- ClinGen CA016445
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Pathogenic/Likely pathogenic
- Long QT syndrome 3; Dilated cardiomyopathy 1E; Progressive familial heart block
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.81
- MetaLR 0.93
- MetaSVM 1.17
- CADD 25.20
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome 3; Dilated cardiomyopathy 1E; Progressive famil)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Natural history of Brugada syndrome: insights for risk stratification and management. (PMID 11901046)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)