Q421K (p.Gln421Lys) variant of PKLR (Pyruvate kinase PKLR)
Q421K (p.Gln421Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Q421K (p.Gln421Lys) variant details
- p.Gln421Lys
- rs118204084
- ClinGen CA215077
- ClinVar RCV000001573
- UniProt VAR 004058
- Pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.07
- CADD 27.60
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with… (PMID 1536957)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)