A1728V (p.Ala1728Val) variant of FBN1 (Fibrillin-1)
A1728V (p.Ala1728Val) 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 Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect. The record also includes variant effect predictions and published literature.
A1728V (p.Ala1728Val) variant details
- p.Ala1728Val
- rs1131691804
- ClinGen CA392349119
- NCI-TCGA Cosmic COSV1003
- ClinVar RCV000493791
- Pathogenic/Likely pathogenic
- Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect
- Missense
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (Connective tissue disorder; Familial thoracic aortic aneurysm an)
- EBI: Pathogenic (in GPHYSD2)
- UniProt: Pathogenic (in GPHYSD2)
- Cited in: Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (PMID 21683322)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)