P95L (p.Pro95Leu) variant of KMT2E (Histone reader KMT2E)
P95L (p.Pro95Leu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P95L (p.Pro95Leu) variant details
- p.Pro95Leu
- gnomAD 7-105063448-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available