W50G (p.Trp50Gly) variant of ACVRL1 (Activin receptor type-1-like)
W50G (p.Trp50Gly) 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 0.56 / 1. The record also includes published literature and structural context.
W50G (p.Trp50Gly) variant details
- p.Trp50Gly
- rs1555152468
- ClinGen CA384897704
- ClinVar RCV002017836
- Ensembl rs1555152468
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.72
- MetaLR 0.64
- MetaSVM 0.01
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. (PMID 16525724)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)