P64L (p.Pro64Leu) variant of TGFB2 (P61812)
P64L (p.Pro64Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs1317014757
- ClinGen CA344725491
- ClinVar RCV003172118
- ClinVar RCV006473852
- Uncertain significance
- Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.65
- CADD 28.90
- PolyPhen-2 0.95
- SIFT 0.00
- 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 Non-Finnish European population (allele frequency 9e-07)
- 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)