E108Q (p.Glu108Gln) variant of JMJD4 (Q9H9V9)
E108Q (p.Glu108Gln) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E108Q (p.Glu108Gln) variant details
- p.Glu108Gln
- ESP rs138383272
- TOPMed rs138383272
- gnomAD rs138383272
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- ESM-1b 0.01
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.78
- CADD 17.43
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available