H377D (p.His377Asp) variant of TGFBR2 (TGF-beta receptor type-2)
H377D (p.His377Asp) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
H377D (p.His377Asp) variant details
- p.His377Asp
- rs2125436421
- ClinGen CA351808596
- ClinVar RCV003221711
- ClinVar RCV005102407
- Conflicting interpretations
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Likely pathogenic (in LDS2)
- UniProt: Likely pathogenic (in LDS2)
- 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)