M1I (p.Met1Ile) variant of SCN1B (Q07699)
M1I (p.Met1Ile) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2064208424
- ClinGen CA405327779
- ClinVar RCV003623809
- ClinGen CA405327780
- Pathogenic
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.80
- MetaSVM 0.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Pathogenic (Brugada syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)