Y61H (p.Tyr61His) variant of NSD1 (Q96L73)
Y61H (p.Tyr61His) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y61H (p.Tyr61His) variant details
- p.Tyr61His
- TOPMed rs1364964092
- gnomAD rs1364964092
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.45
- CADD 23.80
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available