K82Q (p.Lys82Gln) variant of G6PD (P11413)
K82Q (p.Lys82Gln) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Anemia, nonspherocytic hemolytic, due to G6PD defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K82Q (p.Lys82Gln) variant details
- p.Lys82Gln
- rs782065240
- ClinGen CA10566295
- ClinVar RCV001509139
- ClinVar RCV002564276
- Uncertain significance
- not specified; not provided; Anemia, nonspherocytic hemolytic, due to G6PD defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.33
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; not provided; Anemia, nonspherocytic hemolytic, d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)