I90N (p.Ile90Asn) variant of PKLR (Pyruvate kinase PKLR)
I90N (p.Ile90Asn) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I90N (p.Ile90Asn) variant details
- p.Ile90Asn
- TOPMed rs1647900493
- UniProt VAR 011438
- Pathogenic
- in CNSHA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)