H82R (p.His82Arg) variant of JMJD4 (Q9H9V9)
H82R (p.His82Arg) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H82R (p.His82Arg) variant details
- p.His82Arg
- 1000Genomes rs765269210
- ExAC rs765269210
- TOPMed rs765269210
- gnomAD rs765269210
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.02
- CADD 19.43
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available