R479Q (p.Arg479Gln) variant of ACVRL1 (Activin receptor type-1-like)
R479Q (p.Arg479Gln) 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; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R479Q (p.Arg479Gln) variant details
- p.Arg479Gln
- rs1085307426
- ClinGen CA384905684
- ClinVar RCV000488513
- ClinVar RCV000546029
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.92
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)