V12L (p.Val12Leu) variant of G6PD (P11413)
V12L (p.Val12Leu) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- rs797043472
- ClinGen CA415202491
- ClinVar RCV002305797
- TOPMed rs797043472
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- CADD 19.80
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Likely pathogenic (in Sinnai)
- UniProt: Likely pathogenic (in Sinnai)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online. (PMID 10627140)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)