H314Y (p.His314Tyr) variant of ACVRL1 (Activin receptor type-1-like)
H314Y (p.His314Tyr) 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 0.89 / 1. The record also includes published literature and structural context.
H314Y (p.His314Tyr) variant details
- p.His314Tyr
- rs1565594311
- ClinGen CA384901181
- ClinVar RCV000706665
- ClinVar RCV002369971
- Pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PMID 15024723)
- Cited in: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary… (PMID 26176610)