E14Q (p.Glu14Gln) variant of MAX (Protein max)
E14Q (p.Glu14Gln) in MAX (Protein max) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- ExAC rs754684431
- gnomAD rs754684431
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available