D12Y (p.Asp12Tyr) variant of JUN (Transcription factor Jun)
D12Y (p.Asp12Tyr) in JUN (Transcription factor Jun) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- gnomAD 1-58783037-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.60
- MetaLR 0.13
- MetaSVM -0.81
- CADD 24.60
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available