A20L (p.Ala20Leu) variant of KMT2E (Histone reader KMT2E)
A20L (p.Ala20Leu) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A20L (p.Ala20Leu) variant details
- p.Ala20Leu
- gnomAD 7-105041008-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available