E17Q (p.Glu17Gln) variant of AIRE (Autoimmune regulator)
E17Q (p.Glu17Gln) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- gnomAD 21-44286055-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.62
- MetaLR 0.86
- MetaSVM 0.87
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available