E75E (p.Glu75Glu) variant of H6PD (O95479)
E75E (p.Glu75Glu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E75E (p.Glu75Glu) variant details
- p.Glu75Glu
- rs909378546
- gnomAD 1-9245159-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 8.93
- Population evidence available
- Structural context available
- Literature evidence available