V33E (p.Val33Glu) variant of KMT2E (Histone reader KMT2E)
V33E (p.Val33Glu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- gnomAD 7-105062190-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available