S17C (p.Ser17Cys) variant of PKLR (Pyruvate kinase PKLR)
S17C (p.Ser17Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- TOPMed rs1442131020
- gnomAD rs1442131020
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 1.09
- CADD 23.20
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available