A7S (p.Ala7Ser) variant of JMJD4 (Q9H9V9)
A7S (p.Ala7Ser) 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.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- ExAC rs776321470
- TOPMed rs776321470
- gnomAD rs776321470
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -0.98
- CADD 5.75
- Most common in the REMAINING population (allele frequency 0.0002)
- Structural context available