F39L (p.Phe39Leu) variant of NSD1 (Q96L73)
F39L (p.Phe39Leu) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- gnomAD 5-177135218-TTTTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available