R17* (p.Arg17Ter) variant of MAX (Protein max)
R17* (p.Arg17Ter) in MAX (Protein max) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R17* (p.Arg17Ter) variant details
- p.Arg17Ter
- rs769051095
- gnomAD 14-65076645-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- AlphaMissense 0.22
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.40
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available