S8P (p.Ser8Pro) variant of PKLR (Pyruvate kinase PKLR)
S8P (p.Ser8Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- TOPMed rs1647981030
- gnomAD rs1647981030
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.30
- CADD 4.98
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available