E379Q (p.Glu379Gln) variant of ACVRL1 (Activin receptor type-1-like)
E379Q (p.Glu379Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
E379Q (p.Glu379Gln) variant details
- p.Glu379Gln
- rs1131691686
- ClinGen CA384902499
- ClinVar RCV002466885
- TOPMed rs1131691686
- Uncertain significance
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- 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)