C12W (p.Cys12Trp) variant of NSD1 (Q96L73)
C12W (p.Cys12Trp) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C12W (p.Cys12Trp) variant details
- p.Cys12Trp
- TOPMed rs1433725330
- gnomAD rs1433725330
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.68
- CADD 25.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available