R25W (p.Arg25Trp) variant of MAX (Protein max)
R25W (p.Arg25Trp) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs2139886995
- cosmic curated COSV10800
- UniProt VAR 079349
- Ensembl rs2139886995
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Pathogenic (in PCC)
- UniProt: Pathogenic (in PCC)
- Population evidence available
- Structural context available
- Cited in: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. (PMID 22452945)
- Cited in: Functional and in silico assessment of MAX variants of unknown significance. (PMID 26070438)