E67A (p.Glu67Ala) variant of WRN (Q14191)
E67A (p.Glu67Ala) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E67A (p.Glu67Ala) variant details
- p.Glu67Ala
- gnomAD 8-31059253-CAGAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available