R62C (p.Arg62Cys) variant of FBN1 (Fibrillin-1)
R62C (p.Arg62Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MFS. The record also includes variant effect predictions, population frequency data, and published literature.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs25403
- ClinGen CA012607
- ClinVar RCV000035129
- ClinVar RCV000493952
- Pathogenic
- in MFS
- Missense
- REVEL 0.73
- MetaLR 0.75
- MetaSVM 0.65
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. (PMID 12203992)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)