W43* (p.Trp43Ter) variant of H6PD (O95479)
W43* (p.Trp43Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W43* (p.Trp43Ter) variant details
- p.Trp43Ter
- gnomAD rs1252321067
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 39.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available