I7M (p.Ile7Met) variant of MAX (Protein max)
I7M (p.Ile7Met) 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 cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- rs760248675
- ClinGen CA7233038
- NCI-TCGA Cosmic COSV5241
- NCI-TCGA Cosmic COSV9940
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.63
- CADD 23.80
- PolyPhen-2 0.41
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)