G350S (p.Gly350Ser) variant of ACVRL1 (Activin receptor type-1-like)
G350S (p.Gly350Ser) 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 Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G350S (p.Gly350Ser) variant details
- p.Gly350Ser
- rs1565594547
- ClinGen CA384901863
- ClinVar RCV002398675
- ClinVar RCV003509751
- Likely pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular p)
- 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)