P16L (p.Pro16Leu) variant of MAX (Protein max)
P16L (p.Pro16Leu) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Hereditary cancer-predisposing syndrome; Hereditary pheochromo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2063834899
- ClinGen CA390038765
- ClinVar RCV001303088
- ClinVar RCV002341602
- Uncertain significance
- Pheochromocytoma; Hereditary cancer-predisposing syndrome; Hereditary pheochromo
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Pheochromocytoma; Hereditary cancer-predisposing syndrome; Hered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)