E24K (p.Glu24Lys) variant of KMT2E (Histone reader KMT2E)
E24K (p.Glu24Lys) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD 7-105041022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- CADD 27.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available