C34* (p.Cys34Ter) variant of ACVRL1 (Activin receptor type-1-like)
C34* (p.Cys34Ter) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C34* (p.Cys34Ter) variant details
- p.Cys34Ter
- rs1226848374
- ClinGen CA384897514
- ClinVar RCV001221492
- ClinVar RCV002379838
- Pathogenic
- in HHT2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 33.00
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Population evidence available
- 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)