G47C (p.Gly47Cys) variant of FBN1 (Fibrillin-1)
G47C (p.Gly47Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and published literature.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- rs762400500
- ClinGen CA392453522
- ClinVar RCV000550995
- ExAC rs762400500
- Likely benign
- Missense
- AlphaMissense 0.13
- MetaLR 0.49
- MetaSVM -0.31
- SIFT 1.00
- MutPred 0.42
- EBI: Likely benign
- UniProt: Likely benign
- 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)