W2* (p.Trp2Ter) variant of H6PD (O95479)
W2* (p.Trp2Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- gnomAD rs1307163367
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 40.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available