C5Y (p.Cys5Tyr) variant of NSD1 (Q96L73)
C5Y (p.Cys5Tyr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C5Y (p.Cys5Tyr) variant details
- p.Cys5Tyr
- gnomAD rs1169930104
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.67
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available