D35H (p.Asp35His) variant of TGFBR2 (TGF-beta receptor type-2)
D35H (p.Asp35His) 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 Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- rs984098699
- ClinGen CA351806307
- ClinVar RCV001184599
- ClinVar RCV004008469
- Uncertain significance
- Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.76
- SIFT 0.13
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and ao)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- 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)