H328Q (p.His328Gln) variant of ACVRL1 (Activin receptor type-1-like)
H328Q (p.His328Gln) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
H328Q (p.His328Gln) variant details
- p.His328Gln
- rs1565594410
- ClinGen CA384901435
- ClinVar RCV000689543
- UniProt VAR 070330
- Likely pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)