A400P (p.Ala400Pro) variant of ACVRL1 (Activin receptor type-1-like)
A400P (p.Ala400Pro) 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 not provided; Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A400P (p.Ala400Pro) variant details
- p.Ala400Pro
- rs2139076978
- ClinGen CA384902900
- ClinVar RCV001729985
- Ensembl rs2139076978
- Likely pathogenic
- not provided; Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)