E236K (p.Glu236Lys) variant of ACVRL1 (Activin receptor type-1-like)
E236K (p.Glu236Lys) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E236K (p.Glu236Lys) variant details
- p.Glu236Lys
- rs1592223490
- ClinGen CA384900118
- NCI-TCGA Cosmic COSV6636
- cosmic curated COSV66360
- Pathogenic
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.99
- MetaLR 0.36
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- ClinVar: 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)