E50K (p.Glu50Lys) variant of PKLR (Pyruvate kinase PKLR)
E50K (p.Glu50Lys) 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 0.62 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- ExAC rs752199380
- gnomAD rs752199380
- cosmic curated COSV61361
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available