E125A (p.Glu125Ala) variant of PKLR (Pyruvate kinase PKLR)
E125A (p.Glu125Ala) 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.
E125A (p.Glu125Ala) variant details
- p.Glu125Ala
- ExAC rs767598564
- TOPMed rs767598564
- gnomAD rs767598564
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.68
- AlphaMissense 0.95
- MetaLR 0.33
- MetaSVM -0.31
- CADD 28.40
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available