E317K (p.Glu317Lys) variant of G6PD (P11413)
E317K (p.Glu317Lys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital nonspherocytic hemolytic anemia; Anemia, nonspherocytic hemolytic, du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E317K (p.Glu317Lys) variant details
- p.Glu317Lys
- rs137852339
- ClinGen CA121019
- cosmic curated COSV10442
- ClinVar RCV000011142
- Uncertain significance
- Congenital nonspherocytic hemolytic anemia; Anemia, nonspherocytic hemolytic, du
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.65
- CADD 23.40
- PolyPhen-2 0.59
- SIFT 0.13
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation. (PMID 1303182)
- Cited in: Variants of red cell glucose-6-phosphate dehydrogenase among Asiatic Indians. (PMID 5673160)