E30E (p.Glu30Glu) variant of WRN (Q14191)
E30E (p.Glu30Glu) in WRN (Q14191) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- gnomAD 8-31058537-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.25
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available