R9* (p.Arg9Ter) variant of NSD1 (Q96L73)
R9* (p.Arg9Ter) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- TOPMed rs1397807209
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 35.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available