E7G (p.Glu7Gly) variant of WRN (Q14191)
E7G (p.Glu7Gly) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD 8-31058467-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- CADD 16.70
- PolyPhen-2 0.08
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available