R3L (p.Arg3Leu) variant of JMJD4 (Q9H9V9)
R3L (p.Arg3Leu) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- 1000Genomes rs545637599
- ExAC rs545637599
- TOPMed rs545637599
- gnomAD rs545637599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.02
- MetaSVM -1.05
- CADD 21.30
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.015)
- Structural context available