Q48* (p.Gln48Ter) variant of H6PD (O95479)
Q48* (p.Gln48Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- gnomAD 1-9245076-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available