p.Ala68 Arg69insGlnTyrTyr variant of KMT2E (Histone reader KMT2E)
p.Ala68 Arg69insGlnTyrTyr 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.
p.Ala68 Arg69insGlnTyrTyr variant details
- gnomAD 7-105063367-C-CAC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available