Q57* (p.Gln57Ter) variant of PKLR (Pyruvate kinase PKLR)
Q57* (p.Gln57Ter) in PKLR (Pyruvate kinase PKLR) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs772567442
- ClinGen CA30909235
- ClinVar RCV001000991
- TOPMed rs772567442
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available