R38* (p.Arg38Ter) variant of FBN1 (Fibrillin-1)
R38* (p.Arg38Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
R38* (p.Arg38Ter) variant details
- p.Arg38Ter
- rs1355716557
- ClinGen CA392453622
- ClinVar RCV002246088
- Ensembl rs1355716557
- Pathogenic
- Stop Gained
- AlphaMissense 0.34
- MetaLR 0.19
- MetaSVM -0.91
- SIFT 0.52
- MutPred 0.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)