A6E (p.Ala6Glu) variant of AIRE (Autoimmune regulator)
A6E (p.Ala6Glu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- gnomAD 21-44286023-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.28
- MetaLR 0.46
- MetaSVM -0.34
- CADD 0.29
- PolyPhen-2 0.17
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available