S2250L (p.Ser2250Leu) variant of ANK2 (Ankyrin-2)
S2250L (p.Ser2250Leu) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome. The record also includes variant effect predictions, published literature, and structural context.
S2250L (p.Ser2250Leu) variant details
- p.Ser2250Leu
- rs1049367287
- ClinVar RCV005627845
- Ensembl rs1049367287
- Likely pathogenic
- Brugada syndrome
- Missense
- MutPred 0.15
- ClinVar: Likely pathogenic (Brugada syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)