C94F (p.Cys94Phe) variant of FBN1 (Fibrillin-1)
C94F (p.Cys94Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
C94F (p.Cys94Phe) variant details
- p.Cys94Phe
- Ensembl rs730880098
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic