S48T (p.Ser48Thr) variant of IRF4 (Interferon regulatory factor 4)
S48T (p.Ser48Thr) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S48T (p.Ser48Thr) variant details
- p.Ser48Thr
- gnomAD 6-393295-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.45
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 1.00
- MutPred 0.56
- Population evidence available
- Structural context available
- Literature evidence available