Q20R (p.Gln20Arg) variant of PKLR (Pyruvate kinase PKLR)
Q20R (p.Gln20Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- TOPMed rs200357340
- gnomAD rs200357340
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available