A75T (p.Ala75Thr) variant of JMJD4 (Q9H9V9)
A75T (p.Ala75Thr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- ExAC rs372581089
- TOPMed rs372581089
- gnomAD rs372581089
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.94
- CADD 12.85
- Most common in the Middle Eastern population (allele frequency 0.0018)
- Structural context available