S20P (p.Ser20Pro) variant of MAX (Protein max)
S20P (p.Ser20Pro) 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 0.67 / 1. The record also includes published literature and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- rs2063833930
- ClinGen CA390038716
- ClinVar RCV001365564
- ClinVar RCV006391965
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.26
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 0.49
- SIFT 0.12
- EVE 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)