E30D (p.Glu30Asp) variant of FBN1 (Fibrillin-1)
E30D (p.Glu30Asp) 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.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- rs778831047
- ClinGen CA060356
- ClinVar RCV000586371
- ClinVar RCV003767335
- Likely benign
- Missense
- REVEL 0.17
- MetaLR 0.31
- MetaSVM -0.61
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.37
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)