D58N (p.Asp58Asn) variant of G6PD (P11413)
D58N (p.Asp58Asn) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs137852315
- ClinGen CA120957
- ClinVar RCV000011089
- ClinVar RCV002305426
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.72
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not sp)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from… (PMID 2253938)
- Cited in: G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. (PMID 2503817)