S87G (p.Ser87Gly) variant of PKLR (Pyruvate kinase PKLR)
S87G (p.Ser87Gly) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S87G (p.Ser87Gly) variant details
- p.Ser87Gly
- ExAC rs754454017
- TOPMed rs754454017
- gnomAD rs754454017
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.42
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available