H124Q (p.His124Gln) variant of PKLR (Pyruvate kinase PKLR)
H124Q (p.His124Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H124Q (p.His124Gln) variant details
- p.His124Gln
- TOPMed rs1240858486
- gnomAD rs1240858486
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.72
- AlphaMissense 0.63
- MetaLR 0.05
- MetaSVM -1.11
- CADD 18.90
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available