R356P (p.Arg356Pro) variant of TGFBR2 (TGF-beta receptor type-2)
R356P (p.Arg356Pro) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R356P (p.Arg356Pro) variant details
- p.Arg356Pro
- rs727504292
- ClinGen CA020594
- cosmic curated COSV55444
- ClinVar RCV000154307
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aort)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)