P11S (p.Pro11Ser) variant of TGFBR2 (TGF-beta receptor type-2)
P11S (p.Pro11Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs1201208132
- ClinGen CA351830514
- cosmic curated COSV10460
- ClinVar RCV002666838
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)