P353S (p.Pro353Ser) variant of G6PD (P11413)
P353S (p.Pro353Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P353S (p.Pro353Ser) variant details
- p.Pro353Ser
- rs137852333
- ClinGen CA120986
- ClinVar RCV000011115
- ClinVar RCV002305433
- Pathogenic
- G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.94
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD d)
- EBI: Pathogenic (in Ierapetra)
- UniProt: Pathogenic (in Ierapetra)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. (PMID 1611091)
- Cited in: Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. (PMID 6344088)