S48I (p.Ser48Ile) variant of IRF4 (Interferon regulatory factor 4)
S48I (p.Ser48Ile) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- gnomAD 6-393295-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.81
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.58
- Population evidence available
- Structural context available
- Literature evidence available