C46Y (p.Cys46Tyr) variant of NSD1 (Q96L73)
C46Y (p.Cys46Tyr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C46Y (p.Cys46Tyr) variant details
- p.Cys46Tyr
- Ensembl rs2149755411
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available