D113Y (p.Asp113Tyr) variant of G6PD (P11413)
D113Y (p.Asp113Tyr) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D113Y (p.Asp113Tyr) variant details
- p.Asp113Tyr
- rs5030870
- ClinGen CA415238923
- ClinVar RCV001810613
- ClinVar RCV006466223
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.45
- CADD 23.10
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)