E18G (p.Glu18Gly) variant of BCOR (BCL-6 corepressor)
E18G (p.Glu18Gly) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- ExAC rs749734466
- gnomAD rs749734466
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- CADD 27.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available