A20V (p.Ala20Val) variant of TGFBR1 (TGF-beta receptor type-1)
A20V (p.Ala20Val) 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 not specified; 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.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs1333080544
- ClinGen CA374223760
- ClinVar RCV001194076
- ClinVar RCV001305257
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- 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)