R225G (p.Arg225Gly) variant of TGFBR1 (TGF-beta receptor type-1)
R225G (p.Arg225Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 and structural context.
R225G (p.Arg225Gly) variant details
- p.Arg225Gly
- TOPMed rs1564161544
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.68
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available