R10W (p.Arg10Trp) variant of NSD1 (Q96L73)
R10W (p.Arg10Trp) 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.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- rs1443028884
- gnomAD 5-177136906-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available