T11P (p.Thr11Pro) variant of SMAD4 (SMAD family member 4)
T11P (p.Thr11Pro) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
T11P (p.Thr11Pro) variant details
- p.Thr11Pro
- rs587780791
- ClinGen CA402457291
- ClinVar RCV003474041
- Ensembl rs587780791
- Uncertain significance
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- ClinVar: Uncertain significance (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)