E24V (p.Glu24Val) variant of KMT2E (Histone reader KMT2E)
E24V (p.Glu24Val) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- gnomAD 7-105041023-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.67
- CADD 28.10
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available