W50R (p.Trp50Arg) variant of ACVRL1 (Activin receptor type-1-like)
W50R (p.Trp50Arg) 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 Hereditary hemorrhagic telangiectasia; Telangiectasia, hereditary hemorrhagic, t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
W50R (p.Trp50Arg) variant details
- p.Trp50Arg
- rs1555152468
- ClinGen CA384897700
- ClinVar RCV000558413
- ClinVar RCV002512113
- Likely pathogenic
- Hereditary hemorrhagic telangiectasia; Telangiectasia, hereditary hemorrhagic, t
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.54
- AlphaMissense 0.72
- MetaLR 0.64
- MetaSVM 0.01
- CADD 22.30
- PolyPhen-2 0.00
- ClinVar: Likely pathogenic (Hereditary hemorrhagic telangiectasia; Telangiectasia, hereditar)
- EBI: Likely pathogenic (in HHT2)
- UniProt: Likely pathogenic (in HHT2)
- Population evidence available
- Structural context available
- Cited in: Hereditary Hemorrhagic Telangiectasia. (PMID 20301525)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)