E17V (p.Glu17Val) variant of AIRE (Autoimmune regulator)
E17V (p.Glu17Val) 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.
E17V (p.Glu17Val) variant details
- p.Glu17Val
- gnomAD 21-44286056-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.87
- MetaLR 0.87
- MetaSVM 0.86
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available