S37* (p.Ser37Ter) variant of NSD1 (Q96L73)
S37* (p.Ser37Ter) in NSD1 (Q96L73) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S37* (p.Ser37Ter) variant details
- p.Ser37Ter
- rs562677696
- gnomAD 5-177136925-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.41
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available