S17Y (p.Ser17Tyr) variant of PKLR (Pyruvate kinase PKLR)
S17Y (p.Ser17Tyr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- TOPMed rs1442131020
- gnomAD rs1442131020
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.46
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 1.09
- CADD 22.20
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available