R218P (p.Arg218Pro) variant of ACVRL1 (Activin receptor type-1-like)
R218P (p.Arg218Pro) 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 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R218P (p.Arg218Pro) variant details
- p.Arg218Pro
- rs779287554
- ClinGen CA16614158
- ClinVar RCV000458880
- ExAC rs779287554
- Pathogenic
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.26
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.56
- ClinVar: Pathogenic (Pulmonary arterial hypertension related to hereditary hemorrhagi)
- EBI: Likely pathogenic
- UniProt: Likely 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)