G48R (p.Gly48Arg) variant of ACVRL1 (Activin receptor type-1-like)
G48R (p.Gly48Arg) 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 Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- rs2139064757
- ClinGen CA384897677
- ClinVar RCV001897578
- Ensembl rs2139064757
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.90
- MetaLR 0.94
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- 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: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)