G8W (p.Gly8Trp) variant of KMT2E (Histone reader KMT2E)
G8W (p.Gly8Trp) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- gnomAD 7-105040974-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.87
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available