E379K (p.Glu379Lys) variant of ACVRL1 (Activin receptor type-1-like)
E379K (p.Glu379Lys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E379K (p.Glu379Lys) variant details
- p.Glu379Lys
- rs1131691686
- ClinGen CA384902497
- ClinVar RCV000494459
- ClinVar RCV000554533
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Telangiectasia, hereditary hemorrhagic
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Telangiectasia, heredita)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PMID 15024723)
- Cited in: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel… (PMID 15712270)