C2318S (p.Cys2318Ser) variant of FBN1 (Fibrillin-1)
C2318S (p.Cys2318Ser) 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 Isolated thoracic aortic aneurysm; not provided. The record also includes variant effect predictions.
C2318S (p.Cys2318Ser) variant details
- p.Cys2318Ser
- rs1555394626
- ClinGen CA392330599
- ClinVar RCV001374817
- ClinVar RCV004793368
- Pathogenic/Likely pathogenic
- Isolated thoracic aortic aneurysm; not provided
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Isolated thoracic aortic aneurysm; not provided)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)