M1L (p.Met1Leu) variant of FBN1 (Fibrillin-1)
M1L (p.Met1Leu) 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs730880097
- ClinGen CA392454063
- ClinVar RCV000700179
- ClinVar RCV005831656
- Pathogenic
- Missense
- MetaLR 0.44
- MetaSVM -0.23
- SIFT 0.01
- MutPred 0.98
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)