A400T (p.Ala400Thr) variant of ACVRL1 (Activin receptor type-1-like)
A400T (p.Ala400Thr) 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 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.
A400T (p.Ala400Thr) variant details
- p.Ala400Thr
- rs2139076978
- ClinGen CA384902898
- ClinVar RCV003093198
- ClinVar RCV003443127
- Pathogenic/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: Pathogenic/Likely pathogenic (not provided; Telangiectasia, hereditary hemorrhagic, type 2; Ca)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)