V291M (p.Val291Met) variant of G6PD (P11413)
V291M (p.Val291Met) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of G6PD deficient hemolytic anemia; Inborn genetic diseases; Anemia, nonspherocytic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V291M (p.Val291Met) variant details
- p.Val291Met
- rs137852327
- ClinGen CA120988
- ClinVar RCV000011116
- ClinVar RCV000011117
- Likely pathogenic
- G6PD deficient hemolytic anemia; Inborn genetic diseases; Anemia, nonspherocytic
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in… (PMID 16136268)
- Cited in: G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population. (PMID 16155737)