D400N (p.Asp400Asn) variant of TGFBR1 (TGF-beta receptor type-1)
D400N (p.Asp400Asn) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 1; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D400N (p.Asp400Asn) variant details
- p.Asp400Asn
- rs2118827924
- ClinGen CA374232951
- ClinVar RCV001806343
- ClinVar RCV002542416
- Likely pathogenic
- Loeys-Dietz syndrome 1; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 1; Familial thoracic aortic aneurysm and ao)
- EBI: Likely pathogenic (in LDS1)
- UniProt: Likely pathogenic (in LDS1)
- Structural context 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)