R10C (p.Arg10Cys) variant of NSD1 (Q96L73)
R10C (p.Arg10Cys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs544005934
- gnomAD 5-177136903-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 4.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available