R460C (p.Arg460Cys) variant of TGFBR2 (TGF-beta receptor type-2)
R460C (p.Arg460Cys) 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 Cardiovascular phenotype; not provided; Familial thoracic aortic aneurysm and ao. 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.
R460C (p.Arg460Cys) variant details
- p.Arg460Cys
- rs104893811
- ClinGen CA020661
- NCI-TCGA Cosmic COSV5545
- cosmic curated COSV55452
- Pathogenic
- Cardiovascular phenotype; not provided; Familial thoracic aortic aneurysm and ao
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.85
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.73
- CADD 29.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Familial thoracic aortic)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. (PMID 12821554)
- Cited in: Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (PMID 16027248)