L14F (p.Leu14Phe) variant of JUN (Transcription factor Jun)
L14F (p.Leu14Phe) in JUN (Transcription factor Jun) 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 0.31 / 1. The record also includes population frequency data.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs542953484
- ClinGen CA878390
- ClinVar RCV004203586
- 1000Genomes rs542953484
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)