A8T (p.Ala8Thr) variant of TGFB2 (P61812)
A8T (p.Ala8Thr) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs752870701
- ClinGen CA344725114
- ClinVar RCV004474510
- ClinVar RCV005104748
- Uncertain significance
- Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American 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)