F48L (p.Phe48Leu) variant of JMJD4 (Q9H9V9)
F48L (p.Phe48Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F48L (p.Phe48Leu) variant details
- p.Phe48Leu
- TOPMed rs1660997155
- gnomAD rs1660997155
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.27
- MetaSVM -0.51
- CADD 23.70
- Population evidence available
- Structural context available