I41S (p.Ile41Ser) variant of SCN1B (Q07699)
I41S (p.Ile41Ser) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I41S (p.Ile41Ser) variant details
- p.Ile41Ser
- rs2064221304
- ClinGen CA405328072
- ClinVar RCV001201767
- Ensembl rs2064221304
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.09
- CADD 33.00
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)