L136P (p.Leu136Pro) variant of SCN5A (Nav1.5)
L136P (p.Leu136Pro) in SCN5A (Nav1.5) is a missense change. The available record places it in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L136P (p.Leu136Pro) variant details
- p.Leu136Pro
- rs199473557
- ClinGen CA017871
- ClinVar RCV000058640
- ClinVar RCV006434957
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.91
- MetaSVM 1.00
- CADD 28.60
- SIFT 0.00
- ClinVar: not provided (Brugada syndrome)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)