V33G (p.Val33Gly) variant of KMT2E (Histone reader KMT2E)
V33G (p.Val33Gly) 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.
V33G (p.Val33Gly) variant details
- p.Val33Gly
- gnomAD 7-105062190-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.54
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available