L137F (p.Leu137Phe) variant of G6PD (P11413)
L137F (p.Leu137Phe) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L137F (p.Leu137Phe) variant details
- p.Leu137Phe
- rs2523270927
- ClinGen CA415238554
- ClinVar RCV002305834
- ClinVar RCV003471321
- Likely pathogenic
- Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, du)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)