R35C (p.Arg35Cys) variant of MAX (Protein max)
R35C (p.Arg35Cys) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PCC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- rs2139885633
- NCI-TCGA Cosmic COSV5241
- cosmic curated COSV52419
- UniProt VAR 079351
- Pathogenic
- in PCC
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.00
- 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)