L13M (p.Leu13Met) variant of AIRE (Autoimmune regulator)
L13M (p.Leu13Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 21-44286043-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.51
- MetaLR 0.82
- MetaSVM 0.61
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available