C90Y (p.Cys90Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C90Y (p.Cys90Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C90Y (p.Cys90Tyr) variant details
- p.Cys90Tyr
- rs863223410
- ClinGen CA320646
- ClinVar RCV000196221
- ClinVar RCV001262078
- Pathogenic/Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)