L305F (p.Leu305Phe) variant of TGFBR2 (TGF-beta receptor type-2)
L305F (p.Leu305Phe) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
L305F (p.Leu305Phe) variant details
- p.Leu305Phe
- rs1553630171
- ClinGen CA351808156
- ClinVar RCV000519818
- ClinVar RCV000765721
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.99
- MetaLR 0.50
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)