G98E (p.Gly98Glu) variant of JMJD4 (Q9H9V9)
G98E (p.Gly98Glu) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G98E (p.Gly98Glu) variant details
- p.Gly98Glu
- ExAC rs746700928
- TOPMed rs746700928
- gnomAD rs746700928
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -0.71
- CADD 17.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00055)
- Structural context available