D411N (p.Asp411Asn) variant of TGFBR2 (TGF-beta receptor type-2)
D411N (p.Asp411Asn) 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 TGFBR2-related disorder; not provided; Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D411N (p.Asp411Asn) variant details
- p.Asp411Asn
- rs2125437038
- ClinGen CA351808803
- ClinVar RCV003416988
- ClinVar RCV003778254
- Uncertain significance
- TGFBR2-related disorder; not provided; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.95
- MetaLR 0.36
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.69
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; TGFBR2-)
- 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)