G33R (p.Gly33Arg) variant of PKLR (Pyruvate kinase PKLR)
G33R (p.Gly33Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- TOPMed rs1647977007
- gnomAD rs1647977007
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.50
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available