Q63E (p.Gln63Glu) variant of NSD1 (Q96L73)
Q63E (p.Gln63Glu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q63E (p.Gln63Glu) variant details
- p.Gln63Glu
- gnomAD 5-177135290-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available