P25L (p.Pro25Leu) variant of KMT2E (Histone reader KMT2E)
P25L (p.Pro25Leu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD 7-105062166-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.70
- CADD 27.40
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available