Y41* (p.Tyr41Ter) variant of H6PD (O95479)
Y41* (p.Tyr41Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- gnomAD rs1641119972
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 37.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available