N33S (p.Asn33Ser) variant of TGFBR2 (TGF-beta receptor type-2)
N33S (p.Asn33Ser) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs2125404654
- ClinGen CA351806295
- ClinVar RCV001524902
- ClinVar RCV004008805
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.06
- MetaLR 0.35
- MetaSVM -0.28
- PolyPhen-2 0.26
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)