D23H (p.Asp23His) variant of AIRE (Autoimmune regulator)
D23H (p.Asp23His) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D23H (p.Asp23His) variant details
- p.Asp23His
- gnomAD 21-44286073-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- MetaLR 0.83
- MetaSVM 0.60
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available