Y50Y (p.Tyr50Tyr) variant of H6PD (O95479)
Y50Y (p.Tyr50Tyr) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y50Y (p.Tyr50Tyr) variant details
- p.Tyr50Tyr
- gnomAD 1-9245084-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 7.75
- Population evidence available
- Structural context available
- Literature evidence available