P26L (p.Pro26Leu) variant of TGFBR2 (TGF-beta receptor type-2)
P26L (p.Pro26Leu) in TGFBR2 (TGF-beta receptor type-2) 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; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs2125438811
- ClinGen CA351830609
- ClinVar RCV003862872
- ClinVar RCV004006140
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)