Q63Q (p.Gln63Gln) variant of NSD1 (Q96L73)
Q63Q (p.Gln63Gln) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q63Q (p.Gln63Gln) variant details
- p.Gln63Gln
- rs2149755530
- gnomAD 5-177135292-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 11.40
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available