D51N (p.Asp51Asn) variant of FBN1 (Fibrillin-1)
D51N (p.Asp51Asn) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions, population frequency data, and published literature.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs2140787467
- ClinGen CA392453472
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57311
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.27
- MetaLR 0.56
- MetaSVM 0.19
- CADD 29.60
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)