L14V (p.Leu14Val) variant of JUN (Transcription factor Jun)
L14V (p.Leu14Val) in JUN (Transcription factor Jun) 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 0.31 / 1. The record also includes population frequency data.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- 1000Genomes rs542953484
- ExAC rs542953484
- TOPMed rs542953484
- gnomAD rs542953484
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.08
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)