L11R (p.Leu11Arg) variant of FBN1 (Fibrillin-1)
L11R (p.Leu11Arg) 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.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- rs1555407429
- ClinGen CA392453927
- ClinVar RCV000663627
- ClinVar RCV001855413
- Pathogenic
- Missense
- AlphaMissense 0.51
- MetaLR 0.57
- MetaSVM 0.37
- SIFT 0.00
- MutPred 0.66
- 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)