C344F (p.Cys344Phe) variant of ACVRL1 (Activin receptor type-1-like)
C344F (p.Cys344Phe) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C344F (p.Cys344Phe) variant details
- p.Cys344Phe
- rs28936688
- ClinGen CA384901742
- ClinVar RCV000815009
- ClinVar RCV002381824
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- 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)