K24R (p.Lys24Arg) variant of MAX (Protein max)
K24R (p.Lys24Arg) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs1174960252
- ClinGen CA390037821
- ClinVar RCV001057621
- ClinVar RCV003478683
- Uncertain significance
- not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Hereditary pheochromocytoma and paraganglioma; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-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)