R116Q (p.Arg116Gln) variant of PKLR (Pyruvate kinase PKLR)
R116Q (p.Arg116Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R116Q (p.Arg116Gln) variant details
- p.Arg116Gln
- ExAC rs754441130
- gnomAD rs754441130
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available