E407D (p.Glu407Asp) variant of ACVRL1 (Activin receptor type-1-like)
E407D (p.Glu407Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E407D (p.Glu407Asp) variant details
- p.Glu407Asp
- rs1565595129
- ClinGen CA384903002
- ClinVar RCV000710057
- ClinVar RCV002360842
- Pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 0.97
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PMID 10767348)
- Cited in: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel… (PMID 15712270)