W399S (p.Trp399Ser) variant of ACVRL1 (Activin receptor type-1-like)
W399S (p.Trp399Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
W399S (p.Trp399Ser) variant details
- p.Trp399Ser
- rs121909289
- ClinGen CA119410
- ClinVar RCV000008744
- ClinVar RCV002345234
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to… (PMID 14684682)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)