L273P (p.Leu273Pro) variant of ACVRL1 (Activin receptor type-1-like)
L273P (p.Leu273Pro) 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; Telangiectasia, hereditary hemorrhagic, type 2; Heredi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L273P (p.Leu273Pro) variant details
- p.Leu273Pro
- rs1085307409
- ClinGen CA384900434
- ClinVar RCV000488783
- ClinVar RCV002431425
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; Heredi
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hereditary Hemorrhagic Telangiectasia. (PMID 20301525)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)