C12C (p.Cys12Cys) variant of NSD1 (Q96L73)
C12C (p.Cys12Cys) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C12C (p.Cys12Cys) variant details
- p.Cys12Cys
- gnomAD 5-177135139-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 13.40
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available