A7V (p.Ala7Val) variant of TGFBR1 (TGF-beta receptor type-1)
A7V (p.Ala7Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs863223802
- ClinGen CA321351
- ClinVar RCV000196930
- ClinVar RCV000811870
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.27
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00049)
- 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)