R3P (p.Arg3Pro) variant of TGFBR2 (TGF-beta receptor type-2)
R3P (p.Arg3Pro) 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 Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs780267559
- ClinGen CA050096
- ClinVar RCV004013700
- ClinVar RCV006483798
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.46
- CADD 25.90
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)