E31Q (p.Glu31Gln) variant of SMAD4 (SMAD family member 4)
E31Q (p.Glu31Gln) 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 0.54 / 1. The record also includes published literature and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- rs1909568048
- ClinGen CA402457581
- ClinVar RCV004015491
- Ensembl rs1909568048
- Uncertain significance
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.88
- MetaLR 0.51
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- 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)