I39V (p.Ile39Val) variant of MAX (Protein max)
I39V (p.Ile39Val) 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 pheochromocytoma and paraganglioma. The record also includes structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- Ensembl rs2063580953
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available