Q49H (p.Gln49His) variant of PKLR (Pyruvate kinase PKLR)
Q49H (p.Gln49His) 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 0.40 / 1. The record also includes population frequency data and structural context.
Q49H (p.Gln49His) variant details
- p.Gln49His
- TOPMed rs1647912559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.41
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available