M1T (p.Met1Thr) variant of FBN1 (Fibrillin-1)
M1T (p.Met1Thr) 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.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs886041536
- ClinGen CA392454060
- ClinVar RCV000663593
- ClinVar RCV004788083
- Pathogenic
- Missense
- MetaLR 0.53
- MetaSVM 0.12
- SIFT 0.00
- MutPred 0.97
- 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)