E102G (p.Glu102Gly) variant of PKLR (Pyruvate kinase PKLR)
E102G (p.Glu102Gly) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E102G (p.Glu102Gly) variant details
- p.Glu102Gly
- TOPMed rs1647552348
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 27.00
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available