L7L (p.Leu7Leu) variant of NSD1 (Q96L73)
L7L (p.Leu7Leu) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- gnomAD 5-177135124-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 9.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available