S17* (p.Ser17Ter) variant of NSD1 (Q96L73)
S17* (p.Ser17Ter) in NSD1 (Q96L73) is a protein-truncating 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.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- rs1756383012
- gnomAD 5-177136886-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0909
- CADD 1.79
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available