A24S (p.Ala24Ser) variant of NSD1 (Q96L73)
A24S (p.Ala24Ser) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 5-177136918-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 2.69
- Population evidence available
- Structural context available
- Literature evidence available