D113N (p.Asp113Asn) variant of G6PD (P11413)
D113N (p.Asp113Asn) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D113N (p.Asp113Asn) variant details
- p.Asp113Asn
- rs5030870
- ClinGen CA10566262
- ClinVar RCV000347245
- ClinVar RCV002305477
- Uncertain significance
- not specified; not provided; Anemia, nonspherocytic hemolytic, due to G6PD defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.32
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; not provided; Anemia, nonspherocytic hemolytic, d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)