M19W (p.Met19Trp) variant of KMT2E (Histone reader KMT2E)
M19W (p.Met19Trp) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M19W (p.Met19Trp) variant details
- p.Met19Trp
- gnomAD 7-105041004-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available