C41Y (p.Cys41Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C41Y (p.Cys41Tyr) 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 0.97 / 1. The record also includes published literature and structural context.
C41Y (p.Cys41Tyr) variant details
- p.Cys41Tyr
- rs1184716348
- ClinGen CA384897604
- ClinVar RCV001065552
- UniProt VAR 075232
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely 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: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)