W399G (p.Trp399Gly) variant of ACVRL1 (Activin receptor type-1-like)
W399G (p.Trp399Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W399G (p.Trp399Gly) variant details
- p.Trp399Gly
- rs1085307418
- ClinGen CA384902880
- ClinVar RCV001911102
- ClinVar RCV002334821
- Pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- 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)