H32R (p.His32Arg) variant of G6PD (P11413)
H32R (p.His32Arg) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- rs137852340
- ClinGen CA121023
- cosmic curated COSV10584
- ClinVar RCV000011146
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.78
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.28
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due t)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese. (PMID 1945893)
- Cited in: [Studies on erythrocyte glucose-6-phosphate dehydrogenase variants in Chinese. I. Gd(-) Lizu-Baisha (author's transl)]. (PMID 6805883)