A21S (p.Ala21Ser) variant of TGFBR2 (TGF-beta receptor type-2)
A21S (p.Ala21Ser) 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 Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- rs1697933901
- ClinGen CA351830575
- ClinVar RCV003824820
- ClinVar RCV004006092
- Uncertain significance
- Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.20
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- 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)