E41* (p.Glu41Ter) variant of NSD1 (Q96L73)
E41* (p.Glu41Ter) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- rs944974487
- gnomAD 5-177136945-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 4.51
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available