L43L (p.Leu43Leu) variant of NSD1 (Q96L73)
L43L (p.Leu43Leu) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs1416811090
- gnomAD 5-177136932-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 3.27
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available