T8Q (p.Thr8Gln) variant of WRN (Q14191)
T8Q (p.Thr8Gln) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T8Q (p.Thr8Gln) variant details
- p.Thr8Gln
- rs1812358625
- gnomAD 8-31058466-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available