S2* (p.Ser2Ter) variant of PKLR (Pyruvate kinase PKLR)
S2* (p.Ser2Ter) in PKLR (Pyruvate kinase PKLR) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- ExAC rs774176341
- TOPMed rs774176341
- gnomAD rs774176341
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available