P78L (p.Pro78Leu) variant of KMT2E (Histone reader KMT2E)
P78L (p.Pro78Leu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- gnomAD 7-105063397-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.72
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available