V442M (p.Val442Met) variant of ACVRL1 (Activin receptor type-1-like)
V442M (p.Val442Met) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
V442M (p.Val442Met) variant details
- p.Val442Met
- rs1085307421
- ClinGen CA384904129
- ClinVar RCV000488495
- ClinVar RCV000814063
- Conflicting interpretations
- not provided; Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.90
- MetaLR 0.54
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Conflicting classifications of pathogenicity (not provided; 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)