R33* (p.Arg33Ter) variant of MAX (Protein max)
R33* (p.Arg33Ter) in MAX (Protein max) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs387906651
- NCI-TCGA Cosmic COSV5241
- cosmic curated COSV52415
- Ensembl rs387906651
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available