G312S (p.Gly312Ser) variant of TGFBR1 (TGF-beta receptor type-1)
G312S (p.Gly312Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G312S (p.Gly312Ser) variant details
- p.Gly312Ser
- rs760079636
- ClinGen CA043448
- ClinVar RCV000199247
- ClinVar RCV000208245
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)