P50S (p.Pro50Ser) variant of G6PD (P11413)
P50S (p.Pro50Ser) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD def. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs2523273261
- ClinGen CA415240119
- ClinVar RCV002305814
- ClinVar RCV004596536
- Likely pathogenic
- not provided; G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD def
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; G6PD deficiency; Anemia, nonspherocytic hemolytic,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)