C74S (p.Cys74Ser) variant of PKLR (Pyruvate kinase PKLR)
C74S (p.Cys74Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, 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 0.77 / 1. The record also includes population frequency data and structural context.
C74S (p.Cys74Ser) variant details
- p.Cys74Ser
- rs1394809863
- TOPMed rs1394809863
- gnomAD rs1394809863
- ClinGen CA342758357
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.78
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available