L84P (p.Leu84Pro) variant of JMJD4 (Q9H9V9)
L84P (p.Leu84Pro) 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.
L84P (p.Leu84Pro) variant details
- p.Leu84Pro
- TOPMed rs1203241290
- gnomAD rs1203241290
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.36
- MetaSVM -0.42
- CADD 21.90
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available