E41E (p.Glu41Glu) variant of NSD1 (Q96L73)
E41E (p.Glu41Glu) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E41E (p.Glu41Glu) variant details
- p.Glu41Glu
- rs1395825730
- gnomAD 5-177135226-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available