F18I (p.Phe18Ile) variant of MAX (Protein max)
F18I (p.Phe18Ile) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
F18I (p.Phe18Ile) variant details
- p.Phe18Ile
- rs2139963969
- ClinGen CA390038746
- ClinVar RCV002039569
- ClinVar RCV002343888
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.17
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)