Q19H (p.Gln19His) variant of MAX (Protein max)
Q19H (p.Gln19His) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- rs1395966308
- ClinGen CA390038723
- ClinVar RCV001338646
- ClinVar RCV002357178
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.30
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)