C46S (p.Cys46Ser) variant of ACVRL1 (Activin receptor type-1-like)
C46S (p.Cys46Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C46S (p.Cys46Ser) variant details
- p.Cys46Ser
- rs1555152454
- ClinGen CA384897664
- ClinVar RCV000640437
- ClinVar RCV003303025
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely 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)