R17Q (p.Arg17Gln) variant of MAX (Protein max)
R17Q (p.Arg17Gln) in MAX (Protein max) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs761220254
- gnomAD 14-65076644-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 13.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available