D331E (p.Asp331Glu) variant of PKLR (Pyruvate kinase PKLR)
D331E (p.Asp331Glu) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D331E (p.Asp331Glu) variant details
- p.Asp331Glu
- rs138476691
- ESP rs138476691
- ExAC rs138476691
- TOPMed rs138476691
- Pathogenic/Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 1.08
- CADD 12.50
- 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 Latino/Admixed American population (allele frequency 0.00079)
- Structural context available
- Cited in: Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (PMID 7706479)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)