R10H (p.Arg10His) variant of NSD1 (Q96L73)
R10H (p.Arg10His) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs376850081
- gnomAD 5-177136904-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- CADD 0.76
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available