R6G (p.Arg6Gly) variant of JMJD4 (Q9H9V9)
R6G (p.Arg6Gly) in JMJD4 (Q9H9V9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- ExAC rs759354399
- TOPMed rs759354399
- gnomAD rs759354399
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.03
- MetaSVM -1.04
- CADD 21.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available