Y20C (p.Tyr20Cys) variant of FBN1 (Fibrillin-1)
Y20C (p.Tyr20Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in MFS. The record also includes variant effect predictions, population frequency data, and published literature.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- rs201309310
- ClinGen CA016208
- ClinVar RCV000148501
- ClinVar RCV000181402
- Likely benign
- in MFS
- Missense
- REVEL 0.37
- MetaLR 0.26
- MetaSVM -0.83
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Likely benign (in MFS)
- UniProt: Likely benign (in MFS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome… (PMID 16222657)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)