R528H (p.Arg528His) variant of TGFBR2 (TGF-beta receptor type-2)
R528H (p.Arg528His) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R528H (p.Arg528His) variant details
- p.Arg528His
- rs104893815
- ClinGen CA020730
- NCI-TCGA Cosmic COSV5544
- cosmic curated COSV55442
- Pathogenic
- not provided; Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (not provided; Loeys-Dietz syndrome; Familial thoracic aortic ane)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available
- Cited in: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in… (PMID 15731757)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)