V53L (p.Val53Leu) variant of NSD1 (Q96L73)
V53L (p.Val53Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- ExAC rs776883958
- gnomAD rs776883958
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- CADD 21.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available