R62H (p.Arg62His) variant of FBN1 (Fibrillin-1)
R62H (p.Arg62His) 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.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs145942328
- ClinGen CA012618
- ClinVar RCV000035130
- ClinVar RCV000755193
- Pathogenic
- in MFS
- Missense
- REVEL 0.60
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Population evidence available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)