E48E (p.Glu48Glu) variant of WRN (Q14191)
E48E (p.Glu48Glu) in WRN (Q14191) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs145959045
- gnomAD 8-31059200-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 8.81
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available