L12C (p.Leu12Cys) variant of IFNGR2 (Interferon gamma receptor 2)
L12C (p.Leu12Cys) in IFNGR2 (Interferon gamma receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L12C (p.Leu12Cys) variant details
- p.Leu12Cys
- gnomAD 21-33403575-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available