L323P (p.Leu323Pro) variant of G6PD (P11413)
L323P (p.Leu323Pro) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L323P (p.Leu323Pro) variant details
- p.Leu323Pro
- rs76723693
- ClinGen CA120992
- ClinVar RCV000011119
- ClinVar RCV000757319
- Pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.81
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. (PMID 2572288)
- Cited in: Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). (PMID 2836867)