Q49* (p.Gln49Ter) variant of PKLR (Pyruvate kinase PKLR)
Q49* (p.Gln49Ter) in PKLR (Pyruvate kinase PKLR) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- gnomAD rs1380918810
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 36.00
- Population evidence available
- Structural context available