C68S (p.Cys68Ser) variant of FBN1 (Fibrillin-1)
C68S (p.Cys68Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ECTOL1. The record also includes variant effect predictions and published literature.
C68S (p.Cys68Ser) variant details
- p.Cys68Ser
- rs113604459
- ClinGen CA392448434
- ClinVar RCV000620921
- UniProt VAR 075988
- Pathogenic
- in ECTOL1
- Missense
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.21
- SIFT 0.00
- MutPred 0.64
- EBI: Pathogenic (in ECTOL1)
- UniProt: Pathogenic (in ECTOL1)
- Cited in: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PMID 17657824)
- Cited in: Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of… (PMID 11700157)