G163S (p.Gly163Ser) variant of G6PD (P11413)
G163S (p.Gly163Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G163S (p.Gly163Ser) variant details
- p.Gly163Ser
- rs137852314
- ClinGen CA120953
- ClinVar RCV000011085
- ClinVar RCV000282708
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.94
- CADD 23.70
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malari)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia. (PMID 11499668)
- Cited in: Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the… (PMID 15349799)