D34Y (p.Asp34Tyr) variant of AIRE (Autoimmune regulator)
D34Y (p.Asp34Tyr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- gnomAD rs1214972960
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.81
- MetaLR 0.93
- MetaSVM 1.02
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available