E6K (p.Glu6Lys) variant of NSD1 (Q96L73)
E6K (p.Glu6Lys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- gnomAD 5-177135119-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available