R41Q (p.Arg41Gln) variant of PKLR (Pyruvate kinase PKLR)
R41Q (p.Arg41Gln) 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 Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs374805791
- 1000Genomes rs374805791
- ExAC rs374805791
- TOPMed rs374805791
- Uncertain significance
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.41
- CADD 21.10
- PolyPhen-2 0.15
- SIFT 0.05
- ClinVar: Uncertain significance (Pyruvate kinase deficiency of red cells)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.015)
- Structural context available