S31A (p.Ser31Ala) variant of TGFBR2 (TGF-beta receptor type-2)
S31A (p.Ser31Ala) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- rs761400349
- ClinGen CA050162
- ClinVar RCV001982374
- ClinVar RCV004010968
- Conflicting interpretations
- Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- 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)