Y66C (p.Tyr66Cys) variant of FBN1 (Fibrillin-1)
Y66C (p.Tyr66Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and published literature.
Y66C (p.Tyr66Cys) variant details
- p.Tyr66Cys
- rs774371494
- ClinGen CA392448458
- ClinVar RCV000663510
- ExAC rs774371494
- Likely pathogenic
- Missense
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.22
- SIFT 0.06
- MutPred 0.32
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)