A2E (p.Ala2Glu) variant of AIRE (Autoimmune regulator)
A2E (p.Ala2Glu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 21-44286011-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.20
- MetaLR 0.58
- MetaSVM -0.27
- CADD 11.70
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available