L11Q (p.Leu11Gln) variant of FBN1 (Fibrillin-1)
L11Q (p.Leu11Gln) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and published literature.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- rs1555407429
- ClinGen CA392453932
- ClinVar RCV000537232
- ClinVar RCV000663626
- Likely pathogenic
- Missense
- AlphaMissense 0.51
- MetaLR 0.57
- MetaSVM 0.37
- SIFT 0.00
- MutPred 0.66
- EBI: Likely pathogenic
- UniProt: Likely 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)