C41G (p.Cys41Gly) variant of ACVRL1 (Activin receptor type-1-like)
C41G (p.Cys41Gly) 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 0.84 / 1. The record also includes published literature and structural context.
C41G (p.Cys41Gly) variant details
- p.Cys41Gly
- rs2139064528
- ClinGen CA384897602
- ClinVar RCV001382876
- Ensembl rs2139064528
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.86
- MetaLR 0.91
- MetaSVM 0.85
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary… (PMID 26176610)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)