R19H (p.Arg19His) variant of TGFBR2 (TGF-beta receptor type-2)
R19H (p.Arg19His) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs763085648
- ClinGen CA351830566
- cosmic curated COSV55459
- ClinVar RCV001181441
- Uncertain significance/Uncertain risk allele
- Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.47
- ClinVar: Uncertain significance/Uncertain risk allele (Loeys-Dietz syndrome 2; Diabetic retinopathy; Familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)