C1622R (p.Cys1622Arg) variant of FBN1 (Fibrillin-1)
C1622R (p.Cys1622Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr. The record also includes variant effect predictions, population frequency data, and published literature.
C1622R (p.Cys1622Arg) variant details
- p.Cys1622Arg
- rs2505497067
- ClinGen CA392351222
- ClinVar RCV002340368
- ClinVar RCV003102646
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.97
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Population evidence available
- Cited in: The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PMID 17657824)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)