Q48S (p.Gln48Ser) variant of H6PD (O95479)
Q48S (p.Gln48Ser) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q48S (p.Gln48Ser) variant details
- p.Gln48Ser
- gnomAD 1-9245074-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available