E139K (p.Glu139Lys) variant of PKLR (Pyruvate kinase PKLR)
E139K (p.Glu139Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E139K (p.Glu139Lys) variant details
- p.Glu139Lys
- ExAC rs748560715
- TOPMed rs748560715
- gnomAD rs748560715
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.63
- CADD 21.10
- PolyPhen-2 0.13
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available