D2D (p.Asp2Asp) variant of NSD1 (Q96L73)
D2D (p.Asp2Asp) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- gnomAD 5-177135109-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 13.70
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available