G111E (p.Gly111Glu) variant of PKLR (Pyruvate kinase PKLR)
G111E (p.Gly111Glu) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- TOPMed rs1325130058
- gnomAD rs1325130058
- cosmic curated COSV10648
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.94
- CADD 27.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available