E17G (p.Glu17Gly) variant of AIRE (Autoimmune regulator)
E17G (p.Glu17Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 21-44286056-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.86
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available