H87R (p.His87Arg) variant of FBN1 (Fibrillin-1)
H87R (p.His87Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
H87R (p.His87Arg) variant details
- p.His87Arg
- rs1060501080
- ClinGen CA16614458
- ClinVar RCV000470077
- ClinVar RCV006550116
- Uncertain significance
- Missense
- AlphaMissense 0.28
- MetaLR 0.25
- MetaSVM -0.67
- SIFT 0.94
- MutPred 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)