A24V (p.Ala24Val) variant of NSD1 (Q96L73)
A24V (p.Ala24Val) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD rs1756207893
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available