E106Q (p.Glu106Gln) variant of PKLR (Pyruvate kinase PKLR)
E106Q (p.Glu106Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E106Q (p.Glu106Gln) variant details
- p.Glu106Gln
- gnomAD rs1647551316
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- CADD 23.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available