R67G (p.Arg67Gly) variant of ACVRL1 (Activin receptor type-1-like)
R67G (p.Arg67Gly) 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 not provided; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- rs1085307405
- ClinGen CA384897886
- ClinVar RCV001507802
- ClinVar RCV006616483
- Pathogenic/Likely pathogenic
- not provided; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.37
- MetaLR 0.75
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- 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)