A24A (p.Ala24Ala) variant of NSD1 (Q96L73)
A24A (p.Ala24Ala) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- gnomAD 5-177135175-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 13.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available