G122S (p.Gly122Ser) variant of PKLR (Pyruvate kinase PKLR)
G122S (p.Gly122Ser) 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.
G122S (p.Gly122Ser) variant details
- p.Gly122Ser
- TOPMed rs1647545745
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- CADD 28.10
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available