R12W (p.Arg12Trp) variant of AIRE (Autoimmune regulator)
R12W (p.Arg12Trp) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- gnomAD 21-44286040-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.72
- MetaLR 0.83
- MetaSVM 0.64
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available