A18T (p.Ala18Thr) variant of TGFB2 (P61812)
A18T (p.Ala18Thr) in TGFB2 (P61812) 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; Loeys-Die. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs886045975
- ClinGen CA10609115
- cosmic curated COSV10442
- ClinVar RCV000395786
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Loeys-Die
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.22
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)