E24* (p.Glu24Ter) variant of KMT2E (Histone reader KMT2E)
E24* (p.Glu24Ter) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- gnomAD 7-105041022-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available