H35Y (p.His35Tyr) variant of AIRE (Autoimmune regulator)
H35Y (p.His35Tyr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
H35Y (p.His35Tyr) variant details
- p.His35Tyr
- gnomAD 21-44286109-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- MetaLR 0.86
- MetaSVM 0.82
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available