L19H (p.Leu19His) variant of JUN (Transcription factor Jun)
L19H (p.Leu19His) in JUN (Transcription factor Jun) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
L19H (p.Leu19His) variant details
- p.Leu19His
- gnomAD 1-58783015-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.80
- PolyPhen-2 0.75
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available