E24Q (p.Glu24Gln) variant of KMT2E (Histone reader KMT2E)
E24Q (p.Glu24Gln) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- gnomAD 7-105041022-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.45
- CADD 26.90
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available