G20C (p.Gly20Cys) variant of IRF4 (Interferon regulatory factor 4)
G20C (p.Gly20Cys) in IRF4 (Interferon regulatory factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- gnomAD 6-393210-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.55
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available