P96S (p.Pro96Ser) variant of PKLR (Pyruvate kinase PKLR)
P96S (p.Pro96Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P96S (p.Pro96Ser) variant details
- p.Pro96Ser
- rs1474390898
- TOPMed rs1474390898
- gnomAD rs1474390898
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.94
- CADD 25.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available