R96T (p.Arg96Thr) variant of FBN1 (Fibrillin-1)
R96T (p.Arg96Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
R96T (p.Arg96Thr) variant details
- p.Arg96Thr
- rs794728291
- ClinGen CA013493
- ClinVar RCV000181644
- ClinVar RCV000243821
- Likely pathogenic
- Missense
- REVEL 0.51
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)