Q3E (p.Gln3Glu) variant of NSD1 (Q96L73)
Q3E (p.Gln3Glu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- gnomAD 5-177135110-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.27
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available