E48G (p.Glu48Gly) variant of WRN (Q14191)
E48G (p.Glu48Gly) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- ExAC rs775635001
- gnomAD rs775635001
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.20
- CADD 27.20
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available