R12K (p.Arg12Lys) variant of AIRE (Autoimmune regulator)
R12K (p.Arg12Lys) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- gnomAD 21-44286041-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.28
- MetaLR 0.44
- MetaSVM -0.31
- CADD 15.90
- PolyPhen-2 0.17
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available