E108K (p.Glu108Lys) variant of JMJD4 (Q9H9V9)
E108K (p.Glu108Lys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- ESP rs138383272
- TOPMed rs138383272
- gnomAD rs138383272
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.09
- MetaSVM -1.06
- CADD 19.92
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available