M1I (p.Met1Ile) variant of CACNB2 (Q08289)
M1I (p.Met1Ile) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 4. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2491183020
- ClinGen CA376213741
- ClinVar RCV003340730
- Uncertain significance
- Brugada syndrome 4
- Missense
- ClinVar: Uncertain significance (Brugada syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)