Q36Q (p.Gln36Gln) variant of NSD1 (Q96L73)
Q36Q (p.Gln36Gln) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q36Q (p.Gln36Gln) variant details
- p.Gln36Gln
- rs549091873
- gnomAD 5-177135211-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 14.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available