R46W (p.Arg46Trp) variant of JMJD4 (Q9H9V9)
R46W (p.Arg46Trp) 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 0.26 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- rs111401193
- ClinGen CA1428121
- ClinVar RCV004077311
- ESP rs111401193
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.03
- MetaSVM -1.04
- CADD 24.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available