L50L (p.Leu50Leu) variant of NSD1 (Q96L73)
L50L (p.Leu50Leu) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs1581089582
- gnomAD 5-177135253-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Population evidence available
- Structural context available
- Literature evidence available