A7T (p.Ala7Thr) variant of JMJD4 (Q9H9V9)
A7T (p.Ala7Thr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- ExAC rs776321470
- TOPMed rs776321470
- gnomAD rs776321470
- Missense
- Variant Prioritization Score for Impact Estimate 0.0933
- REVEL 0.00
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.00
- CADD 9.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available