S216L (p.Ser216Leu) variant of SCN5A (Nav1.5)
S216L (p.Ser216Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Congenital long QT syndrome; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S216L (p.Ser216Leu) variant details
- p.Ser216Leu
- rs41276525
- ClinGen CA019682
- ClinVar RCV000058831
- ClinVar RCV000151805
- Benign/Likely benign
- Congenital long QT syndrome; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 0.92
- CADD 29.50
- ClinVar: Benign/Likely benign (Congenital long QT syndrome; Cardiac arrhythmia)
- EBI: Likely benign (in ATFB10 and BRGDA1)
- UniProt: Likely benign (in ATFB10 and BRGDA1)
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 59.1
- Cited in: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. (PMID 18378609)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)