L29M (p.Leu29Met) variant of AIRE (Autoimmune regulator)
L29M (p.Leu29Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- gnomAD 21-44286091-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.58
- MetaLR 0.87
- MetaSVM 0.72
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available