L43H (p.Leu43His) variant of NSD1 (Q96L73)
L43H (p.Leu43His) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L43H (p.Leu43His) variant details
- p.Leu43His
- rs1336034279
- gnomAD 5-177136931-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.71
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available