A21V (p.Ala21Val) variant of TGFBR1 (TGF-beta receptor type-1)
A21V (p.Ala21Val) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1554695407
- ClinGen CA374223772
- ClinVar RCV000513181
- ClinVar RCV004023474
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.18
- CADD 9.21
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00056)
- 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)