V68M (p.Val68Met) variant of G6PD (P11413)
V68M (p.Val68Met) 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; G6PD deficiency; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs1050828
- ClinGen CA090913
- cosmic curated COSV63703
- ClinVar RCV000011075
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.83
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. (PMID 10734064)
- Cited in: A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. (PMID 11852882)