Q19L (p.Gln19Leu) variant of MAX (Protein max)
Q19L (p.Gln19Leu) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q19L (p.Gln19Leu) variant details
- p.Gln19Leu
- rs200547781
- ClinGen CA7232993
- ClinVar RCV000473057
- ClinVar RCV000562291
- Conflicting interpretations
- not specified; Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary pheochromocytoma and paraganglioma; Ph)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- 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)