P424R (p.Pro424Arg) variant of ACVRL1 (Activin receptor type-1-like)
P424R (p.Pro424Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
P424R (p.Pro424Arg) variant details
- p.Pro424Arg
- rs1940906429
- ClinGen CA384903736
- ClinVar RCV001037203
- ClinVar RCV002372753
- Pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- 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)