R537C (p.Arg537Cys) variant of TGFBR2 (TGF-beta receptor type-2)
R537C (p.Arg537Cys) 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; Loeys-Dietz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R537C (p.Arg537Cys) variant details
- p.Arg537Cys
- rs104893809
- ClinGen CA020742
- NCI-TCGA Cosmic COSV5544
- cosmic curated COSV55442
- Pathogenic
- Cardiovascular phenotype; not provided; Loeys-Dietz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Loeys-Dietz syndrome)
- 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: Heterozygous TGFBR2 mutations in Marfan syndrome. (PMID 15235604)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)