R41G (p.Arg41Gly) variant of FBN1 (Fibrillin-1)
R41G (p.Arg41Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy. The record also includes variant effect predictions, population frequency data, and published literature.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- rs1158441291
- ClinGen CA392453592
- ClinVar RCV001176112
- ClinVar RCV004000322
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Marfan sy
- Missense
- REVEL 0.29
- MetaLR 0.39
- MetaSVM -0.36
- CADD 25.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)