K109E (p.Lys109Glu) variant of PKLR (Pyruvate kinase PKLR)
K109E (p.Lys109Glu) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K109E (p.Lys109Glu) variant details
- p.Lys109Glu
- gnomAD rs1159724535
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available