V16M (p.Val16Met) variant of TGFBR1 (TGF-beta receptor type-1)
V16M (p.Val16Met) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. 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.
V16M (p.Val16Met) variant details
- p.Val16Met
- rs1021523079
- ClinGen CA196864761
- cosmic curated COSV10821
- ClinVar RCV000545217
- Conflicting interpretations
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.20
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Likely benign
- UniProt: Likely benign
- 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)