L43I (p.Leu43Ile) variant of NSD1 (Q96L73)
L43I (p.Leu43Ile) in NSD1 (Q96L73) is a missense 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.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- gnomAD 5-177136930-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 1.09
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available