C1402G (p.Cys1402Gly) variant of FBN1 (Fibrillin-1)
C1402G (p.Cys1402Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Marfan syndrome. The record also includes variant effect predictions and published literature.
C1402G (p.Cys1402Gly) variant details
- p.Cys1402Gly
- rs2141279646
- ClinGen CA392319894
- ClinVar RCV002246032
- Ensembl rs2141279646
- Pathogenic/Likely pathogenic
- Marfan syndrome
- Missense
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)