E125Q (p.Glu125Gln) variant of PKLR (Pyruvate kinase PKLR)
E125Q (p.Glu125Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E125Q (p.Glu125Gln) variant details
- p.Glu125Gln
- ExAC rs752905261
- gnomAD rs752905261
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.50
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available