C2190Y (p.Cys2190Tyr) variant of FBN1 (Fibrillin-1)
C2190Y (p.Cys2190Tyr) 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; MASS syndrome; Stiff skin syndrome. The record also includes variant effect predictions and published literature.
C2190Y (p.Cys2190Tyr) variant details
- p.Cys2190Tyr
- rs1566895262
- ClinGen CA392334893
- ClinVar RCV003224851
- Likely pathogenic
- Marfan syndrome; MASS syndrome; Stiff skin syndrome
- Missense
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Marfan syndrome; MASS syndrome; Stiff skin syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Geleophysic Dysplasia. (PMID 20301776)