M1I (p.Met1Ile) variant of FBN1 (Fibrillin-1)
M1I (p.Met1Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome. The record also includes variant effect predictions and published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs886039072
- ClinGen CA10587866
- ClinVar RCV001256945
- ClinVar RCV002311091
- Pathogenic
- Marfan syndrome
- Missense
- MetaLR 0.50
- MetaSVM -0.00
- SIFT 0.03
- MutPred 0.98
- ClinVar: Pathogenic (Marfan syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)