P45A (p.Pro45Ala) variant of JUN (Transcription factor Jun)
P45A (p.Pro45Ala) in JUN (Transcription factor Jun) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- TOPMed rs1483581904
- gnomAD rs1483581904
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)