L73P (p.Leu73Pro) variant of PKLR (Pyruvate kinase PKLR)
L73P (p.Leu73Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNSHA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L73P (p.Leu73Pro) variant details
- p.Leu73Pro
- ESP rs140571200
- TOPMed rs140571200
- gnomAD rs140571200
- UniProt VAR 058469
- Pathogenic
- in CNSHA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.92
- CADD 27.90
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid… (PMID 19085939)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)