L39del (p.Leu39del) variant of NSD1 (Q96L73)
L39del (p.Leu39del) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L39del (p.Leu39del) variant details
- rs1756389054
- gnomAD 5-177136927-ATCC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.0954
- CADD 2.08
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available