M1V (p.Met1Val) variant of MAX (Protein max)
M1V (p.Met1Val) 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 variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs387906649
- ClinGen CA128636
- ClinVar RCV000022652
- ClinVar RCV000850061
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. (PMID 21685915)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)