G47S (p.Gly47Ser) variant of FBN1 (Fibrillin-1)
G47S (p.Gly47Ser) 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, population frequency data, and published literature.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs762400500
- ClinGen CA012118
- ClinVar RCV000414982
- ClinVar RCV000533830
- Likely benign
- Missense
- REVEL 0.34
- AlphaMissense 0.13
- MetaLR 0.49
- MetaSVM -0.31
- CADD 23.80
- PolyPhen-2 0.99
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)