W71R (p.Trp71Arg) variant of FBN1 (Fibrillin-1)
W71R (p.Trp71Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
W71R (p.Trp71Arg) variant details
- p.Trp71Arg
- rs1555405658
- ClinGen CA392448391
- ClinVar RCV000663519
- ClinVar RCV003767928
- Pathogenic
- Missense
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.80
- SIFT 0.00
- MutPred 0.86
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)