Q19R (p.Gln19Arg) variant of MAX (Protein max)
Q19R (p.Gln19Arg) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- ExAC rs200547781
- TOPMed rs200547781
- gnomAD rs200547781
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available