T384M (p.Thr384Met) variant of PKLR (Pyruvate kinase PKLR)
T384M (p.Thr384Met) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T384M (p.Thr384Met) variant details
- p.Thr384Met
- rs74315362
- TOPMed rs74315362
- gnomAD rs74315362
- ClinGen CA215075
- Pathogenic/Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (PMID 11960989)
- Cited in: cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met)… (PMID 1896471)