D29V (p.Asp29Val) variant of NSD1 (Q96L73)
D29V (p.Asp29Val) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D29V (p.Asp29Val) variant details
- p.Asp29Val
- gnomAD 5-177135189-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available