D29E (p.Asp29Glu) variant of NSD1 (Q96L73)
D29E (p.Asp29Glu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD 5-177135190-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.41
- CADD 17.80
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available