R225W (p.Arg225Trp) variant of TGFBR1 (TGF-beta receptor type-1)
R225W (p.Arg225Trp) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R225W (p.Arg225Trp) variant details
- p.Arg225Trp
- rs1564161544
- ClinGen CA374229645
- NCI-TCGA Cosmic COSV6662
- cosmic curated COSV66627
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.68
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)