S30S (p.Ser30Ser) variant of NSD1 (Q96L73)
S30S (p.Ser30Ser) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1369692658
- gnomAD 5-177136914-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 2.04
- Population evidence available
- Structural context available
- Literature evidence available