G70R (p.Gly70Arg) variant of FBN1 (Fibrillin-1)
G70R (p.Gly70Arg) 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.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs2044669023
- ClinGen CA392448406
- ClinVar RCV001054168
- ClinVar RCV001290544
- Likely pathogenic
- Missense
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.03
- SIFT 0.00
- MutPred 0.84
- 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)