R487W (p.Arg487Trp) variant of TGFBR1 (TGF-beta receptor type-1)
R487W (p.Arg487Trp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple self-healing squamous epithelioma; Loeys-Dietz syndrome 1; Familial tho. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R487W (p.Arg487Trp) variant details
- p.Arg487Trp
- rs111426349
- ClinGen CA008768
- NCI-TCGA Cosmic COSV6662
- cosmic curated COSV66625
- Pathogenic/Likely pathogenic
- Multiple self-healing squamous epithelioma; Loeys-Dietz syndrome 1; Familial tho
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Multiple self-healing squamous epithelioma; Loeys-Dietz syndrome)
- EBI: Pathogenic (in LDS1)
- UniProt: Pathogenic (in LDS1)
- Structural context available
- Cited in: Aneurysm syndromes caused by mutations in the TGF-beta receptor. (PMID 16928994)
- Cited in: Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. (PMID 19542084)