G24R (p.Gly24Arg) variant of JMJD4 (Q9H9V9)
G24R (p.Gly24Arg) 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 0.10 / 1. The record also includes population frequency data and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- ExAC rs746254779
- TOPMed rs746254779
- gnomAD rs746254779
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.03
- CADD 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available