L76P (p.Leu76Pro) variant of PKLR (Pyruvate kinase PKLR)
L76P (p.Leu76Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- rs1331269086
- ClinGen CA342758328
- NCI-TCGA Cosmic COSV1007
- Uncertain significance
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.88
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Pyruvate kinase deficiency of red cells)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available