N741K (p.Asn741Lys) variant of FBN1 (Fibrillin-1)
N741K (p.Asn741Lys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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.
N741K (p.Asn741Lys) variant details
- p.Asn741Lys
- rs2505576288
- ClinGen CA392335731
- ClinVar RCV003803307
- ClinVar RCV004594712
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Marfan syndrome)
- 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)