R12M (p.Arg12Met) variant of AIRE (Autoimmune regulator)
R12M (p.Arg12Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R12M (p.Arg12Met) variant details
- p.Arg12Met
- gnomAD 21-44286041-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.64
- MetaLR 0.82
- MetaSVM 0.65
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available