R10R (p.Arg10Arg) variant of NSD1 (Q96L73)
R10R (p.Arg10Arg) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- rs776826212
- gnomAD 5-177135133-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 13.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available