E41* (p.Glu41Ter) variant of WRN (Q14191)
E41* (p.Glu41Ter) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- gnomAD 8-31059171-G-GT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available