E4A (p.Glu4Ala) variant of JMJD4 (Q9H9V9)
E4A (p.Glu4Ala) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E4A (p.Glu4Ala) variant details
- p.Glu4Ala
- TOPMed rs1174490538
- gnomAD rs1174490538
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.07
- CADD 18.07
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)
- Structural context available