E81K (p.Glu81Lys) variant of PKLR (Pyruvate kinase PKLR)
E81K (p.Glu81Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- ESP rs139707114
- ExAC rs139707114
- TOPMed rs139707114
- gnomAD rs139707114
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.54
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available