R3Q (p.Arg3Gln) variant of TGFBR2 (TGF-beta receptor type-2)
R3Q (p.Arg3Gln) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs780267559
- ClinGen CA050077
- ClinVar RCV001182181
- ClinVar RCV004008281
- Uncertain significance/Uncertain risk allele
- Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.45
- CADD 25.70
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance/Uncertain risk allele (Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-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)