D43T (p.Asp43Thr) variant of WRN (Q14191)
D43T (p.Asp43Thr) in WRN (Q14191) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D43T (p.Asp43Thr) variant details
- p.Asp43Thr
- gnomAD 8-31059182-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available