A400V (p.Ala400Val) variant of ACVRL1 (Activin receptor type-1-like)
A400V (p.Ala400Val) 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 Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A400V (p.Ala400Val) variant details
- p.Ala400Val
- rs2139076990
- ClinGen CA384902904
- ClinVar RCV003620332
- Pathogenic/Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic
- UniProt: 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)