R17M (p.Arg17Met) variant of MAX (Protein max)
R17M (p.Arg17Met) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R17M (p.Arg17Met) variant details
- p.Arg17Met
- gnomAD rs1309179207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.49
- AlphaMissense 0.45
- MetaLR 0.91
- MetaSVM 1.10
- CADD 23.20
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available