C89R (p.Cys89Arg) variant of ACVRL1 (Activin receptor type-1-like)
C89R (p.Cys89Arg) 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; not specified; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C89R (p.Cys89Arg) variant details
- p.Cys89Arg
- rs1555152520
- ClinGen CA384898033
- ClinVar RCV000506417
- ClinVar RCV001857255
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not specified; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not specified; Telangiectasia, heredit)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)