V5A (p.Val5Ala) variant of TGFBR1 (TGF-beta receptor type-1)
V5A (p.Val5Ala) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- rs1826370291
- ClinGen CA374223487
- ClinVar RCV003360630
- Ensembl rs1826370291
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)