A25V (p.Ala25Val) variant of AIRE (Autoimmune regulator)
A25V (p.Ala25Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 21-44286080-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.44
- MetaLR 0.72
- MetaSVM 0.15
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available