R487Q (p.Arg487Gln) variant of TGFBR1 (TGF-beta receptor type-1)
R487Q (p.Arg487Gln) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R487Q (p.Arg487Gln) variant details
- p.Arg487Gln
- rs113605875
- ClinGen CA008776
- NCI-TCGA Cosmic COSV6662
- cosmic curated COSV66625
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.83
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Pathogenic (in LDS1)
- UniProt: Pathogenic (in LDS1)
- Population evidence available
- Structural context available
- Cited in: Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PMID 16791849)
- Cited in: Aneurysm syndromes caused by mutations in the TGF-beta receptor. (PMID 16928994)