S17S (p.Ser17Ser) variant of NSD1 (Q96L73)
S17S (p.Ser17Ser) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- gnomAD 5-177136887-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.73
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available