C1674S (p.Cys1674Ser) variant of FBN1 (Fibrillin-1)
C1674S (p.Cys1674Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss. The record also includes variant effect predictions.
C1674S (p.Cys1674Ser) variant details
- p.Cys1674Ser
- rs794728233
- ClinGen CA392349889
- ClinVar RCV002281860
- Likely pathogenic
- Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Diss
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic An)
- EBI: Likely pathogenic (in MFS)
- UniProt: Likely pathogenic (in MFS)