R484G (p.Arg484Gly) variant of ACVRL1 (Activin receptor type-1-like)
R484G (p.Arg484Gly) 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 Pulmonary hypertension, primary, 1; Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R484G (p.Arg484Gly) variant details
- p.Arg484Gly
- rs121909288
- ClinGen CA384905800
- ClinVar RCV000488804
- ClinVar RCV001003755
- Pathogenic/Likely pathogenic
- Pulmonary hypertension, primary, 1; Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary hypertension, primary, 1; Pulmonary arterial hypertens)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)