G341A (p.Gly341Ala) variant of PKLR (Pyruvate kinase PKLR)
G341A (p.Gly341Ala) 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.
G341A (p.Gly341Ala) variant details
- p.Gly341Ala
- rs1227427396
- TOPMed rs1227427396
- gnomAD rs1227427396
- ClinGen CA342753476
- Pathogenic/Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.70
- 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)
- Population evidence available
- Structural context available
- Cited in: Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. (PMID 21794208)
- Cited in: Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (PMID 7706479)