M1I (p.Met1Ile) variant of FBN1 (Fibrillin-1)
M1I (p.Met1Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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
- Missense
- MetaLR 0.50
- MetaSVM -0.00
- SIFT 0.03
- MutPred 0.98
- 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)