A24D (p.Ala24Asp) variant of NSD1 (Q96L73)
A24D (p.Ala24Asp) in NSD1 (Q96L73) is a missense 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.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 5-177136919-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- CADD 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available