E26* (p.Glu26Ter) variant of NSD1 (Q96L73)
E26* (p.Glu26Ter) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- rs1258507155
- gnomAD 5-177135173-G-GC
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available