L28M (p.Leu28Met) variant of AIRE (Autoimmune regulator)
L28M (p.Leu28Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- gnomAD 21-44286088-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.59
- MetaLR 0.89
- MetaSVM 0.89
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available