E18G (p.Glu18Gly) variant of POLE (Q07864)
E18G (p.Glu18Gly) in POLE (Q07864) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- Ensembl rs2136051922
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.01
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available