E88G (p.Glu88Gly) variant of KMT2E (Histone reader KMT2E)
E88G (p.Glu88Gly) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E88G (p.Glu88Gly) variant details
- p.Glu88Gly
- gnomAD rs1417049068
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.57
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available