R537H (p.Arg537His) variant of TGFBR2 (TGF-beta receptor type-2)
R537H (p.Arg537His) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R537H (p.Arg537His) variant details
- p.Arg537His
- rs1057524810
- ClinGen CA16604407
- NCI-TCGA Cosmic COSV5544
- Conflicting interpretations
- not provided; Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.77
- AlphaMissense 0.74
- MetaLR 0.89
- MetaSVM 0.93
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)