H35L (p.His35Leu) variant of AIRE (Autoimmune regulator)
H35L (p.His35Leu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H35L (p.His35Leu) variant details
- p.His35Leu
- gnomAD 21-44286110-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.68
- MetaLR 0.85
- MetaSVM 0.72
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available