S22C (p.Ser22Cys) variant of TGFBR2 (TGF-beta receptor type-2)
S22C (p.Ser22Cys) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Diabetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- rs767407566
- ClinGen CA049553
- ClinVar RCV001186676
- ClinVar RCV001561186
- Uncertain significance/Uncertain risk allele
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Diabetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0002)
- 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)