R46P (p.Arg46Pro) variant of JMJD4 (Q9H9V9)
R46P (p.Arg46Pro) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- ExAC rs778490477
- TOPMed rs778490477
- gnomAD rs778490477
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.10
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available