C12F (p.Cys12Phe) variant of NSD1 (Q96L73)
C12F (p.Cys12Phe) 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.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- rs963580684
- gnomAD 5-177136889-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 1.85
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available