A21D (p.Ala21Asp) variant of AIRE (Autoimmune regulator)
A21D (p.Ala21Asp) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 21-44286068-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.86
- MetaLR 0.93
- MetaSVM 1.04
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available