G33C (p.Gly33Cys) variant of NSD1 (Q96L73)
G33C (p.Gly33Cys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- gnomAD 5-177136897-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 0.88
- Population evidence available
- Structural context available
- Literature evidence available