A36G (p.Ala36Gly) variant of PKLR (Pyruvate kinase PKLR)
A36G (p.Ala36Gly) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A36G (p.Ala36Gly) variant details
- p.Ala36Gly
- ExAC rs770019694
- TOPMed rs770019694
- gnomAD rs770019694
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- CADD 19.60
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available