K97Q (p.Lys97Gln) variant of G6PD (P11413)
K97Q (p.Lys97Gln) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K97Q (p.Lys97Gln) variant details
- p.Lys97Gln
- ExAC rs782038151
- gnomAD rs782038151
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.38
- CADD 17.70
- PolyPhen-2 0.16
- SIFT 0.16
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available