L75P (p.Leu75Pro) variant of PKLR (Pyruvate kinase PKLR)
L75P (p.Leu75Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
L75P (p.Leu75Pro) variant details
- p.Leu75Pro
- rs2148218886
- ClinGen CA342758341
- ClinVar RCV001729977
- Ensembl rs2148218886
- Likely pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.93
- MetaLR 0.94
- MetaSVM 1.29
- PolyPhen-2 0.18
- SIFT 0.27
- MutPred 0.50
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available