A31E (p.Ala31Glu) variant of AIRE (Autoimmune regulator)
A31E (p.Ala31Glu) 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.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- gnomAD 21-44286098-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.58
- MetaLR 0.81
- MetaSVM 0.67
- CADD 23.70
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available