E63K (p.Glu63Lys) variant of G6PD (P11413)
E63K (p.Glu63Lys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- rs782674059
- ClinGen CA10566303
- NCI-TCGA Cosmic COSV6370
- cosmic curated COSV63704
- Conflicting interpretations
- not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.51
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Anemia, nonspherocytic hemolytic, due to G6PD def)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)