R482S (p.Arg482Ser) variant of TGFBR1 (TGF-beta receptor type-1)
R482S (p.Arg482Ser) 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 Loeys-Dietz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R482S (p.Arg482Ser) variant details
- p.Arg482Ser
- rs1588598651
- ClinGen CA374233681
- ClinVar RCV003533864
- Ensembl rs1588598651
- Likely pathogenic
- Loeys-Dietz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)