R67Q (p.Arg67Gln) variant of ACVRL1 (Activin receptor type-1-like)
R67Q (p.Arg67Gln) 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 Hereditary hemorrhagic telangiectasia; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- rs863223414
- ClinGen CA325011
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10118
- Pathogenic/Likely pathogenic
- Hereditary hemorrhagic telangiectasia; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.20
- MetaLR 0.60
- MetaSVM 0.04
- PolyPhen-2 0.15
- SIFT 0.12
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hemorrhagic telangiectasia; not provided; Cardiovascu)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to… (PMID 14684682)
- Cited in: The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type… (PMID 9245985)