L337P (p.Leu337Pro) variant of ACVRL1 (Activin receptor type-1-like)
L337P (p.Leu337Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L337P (p.Leu337Pro) variant details
- p.Leu337Pro
- rs1592224349
- ClinGen CA384901627
- ClinVar RCV000857241
- UniProt VAR 026797
- Conflicting interpretations
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PMID 15024723)
- Cited in: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic… (PMID 10694922)