E8G (p.Glu8Gly) variant of CHEK2 (O96017)
E8G (p.Glu8Gly) in CHEK2 (O96017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- Ensembl rs2146156441
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.17
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available