G8E (p.Gly8Glu) variant of KMT2E (Histone reader KMT2E)
G8E (p.Gly8Glu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 7-105040975-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.82
- CADD 27.00
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available