Q49Q (p.Gln49Gln) variant of NSD1 (Q96L73)
Q49Q (p.Gln49Gln) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q49Q (p.Gln49Gln) variant details
- p.Gln49Gln
- gnomAD 5-177136953-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 9.46
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available