D51E (p.Asp51Glu) variant of FBN1 (Fibrillin-1)
D51E (p.Asp51Glu) 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, population frequency data, and published literature.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- rs1057524406
- ClinGen CA16607114
- ClinVar RCV000442624
- ClinVar RCV003766453
- Uncertain significance
- Missense
- REVEL 0.43
- MetaLR 0.38
- MetaSVM -0.49
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)