C69R (p.Cys69Arg) variant of ACVRL1 (Activin receptor type-1-like)
C69R (p.Cys69Arg) 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; not provided; 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.
C69R (p.Cys69Arg) variant details
- p.Cys69Arg
- rs2139065261
- ClinGen CA384897896
- cosmic curated COSV66359
- ClinVar RCV001801300
- Pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. (PMID 16525724)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)