R10L (p.Arg10Leu) variant of NSD1 (Q96L73)
R10L (p.Arg10Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 5-177136904-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.58
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available