E407K (p.Glu407Lys) variant of ACVRL1 (Activin receptor type-1-like)
E407K (p.Glu407Lys) 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 Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E407K (p.Glu407Lys) variant details
- p.Glu407Lys
- rs1057521203
- ClinGen CA16607366
- ClinVar RCV000756964
- ClinVar RCV001861514
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- 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)