H50L (p.His50Leu) variant of FBN1 (Fibrillin-1)
H50L (p.His50Leu) 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.
H50L (p.His50Leu) variant details
- p.His50Leu
- rs886039132
- ClinGen CA10587864
- ClinVar RCV000589289
- ClinVar RCV001185056
- Uncertain significance
- Missense
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.82
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)