E129K (p.Glu129Lys) variant of PKLR (Pyruvate kinase PKLR)
E129K (p.Glu129Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
E129K (p.Glu129Lys) variant details
- p.Glu129Lys
- rs773981429
- ExAC rs773981429
- TOPMed rs773981429
- gnomAD rs773981429
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.57
- CADD 16.80
- PolyPhen-2 0.37
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available