R40Q (p.Arg40Gln) variant of PKLR (Pyruvate kinase PKLR)
R40Q (p.Arg40Gln) 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 0.45 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs745811076
- ExAC rs745811076
- TOPMed rs745811076
- gnomAD rs745811076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- CADD 16.80
- PolyPhen-2 0.27
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available