R38G (p.Arg38Gly) variant of FBN1 (Fibrillin-1)
R38G (p.Arg38Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs1355716557
- ClinGen CA392453623
- NCI-TCGA Cosmic COSV5730
- cosmic curated COSV57309
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 0.34
- MetaLR 0.19
- MetaSVM -0.91
- SIFT 0.52
- MutPred 0.40
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)