R411Q (p.Arg411Gln) variant of ACVRL1 (Activin receptor type-1-like)
R411Q (p.Arg411Gln) 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 Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R411Q (p.Arg411Gln) variant details
- p.Arg411Gln
- rs121909284
- ClinGen CA119395
- NCI-TCGA Cosmic COSV6635
- cosmic curated COSV66359
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.90
- AlphaMissense 0.77
- MetaLR 0.90
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PMID 15024723)