F32L (p.Phe32Leu) variant of NSD1 (Q96L73)
F32L (p.Phe32Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- gnomAD 5-177135199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.45
- CADD 25.60
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available