Q22R (p.Gln22Arg) variant of G6PD (P11413)
Q22R (p.Gln22Arg) in G6PD (P11413) is a missense change. 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.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- TOPMed rs2070704319
- gnomAD rs2070704319
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.46
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available