M44I (p.Met44Ile) variant of FH (P07954)
M44I (p.Met44Ile) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
M44I (p.Met44Ile) variant details
- p.Met44Ile
- rs863223982
- ClinGen CA323363
- ClinVar RCV000561722
- ClinVar RCV002515400
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 0.89
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.47
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)