M36V (p.Met36Val) variant of TGFBR2 (TGF-beta receptor type-2)
M36V (p.Met36Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M36V (p.Met36Val) variant details
- p.Met36Val
- rs17025864
- ClinGen CA045593
- ClinVar RCV000242516
- ClinVar RCV000828695
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.18
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely benign (in dbSNP:rs17025864)
- UniProt: Likely benign (in dbSNP:rs17025864)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- 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)