A327P (p.Ala327Pro) variant of ACVRL1 (Activin receptor type-1-like)
A327P (p.Ala327Pro) 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 not provided; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A327P (p.Ala327Pro) variant details
- p.Ala327Pro
- rs1940810597
- ClinGen CA384901417
- ClinVar RCV001225623
- ClinVar RCV001751437
- Conflicting interpretations
- not provided; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (not provided; Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)