L10I (p.Leu10Ile) variant of AIRE (Autoimmune regulator)
L10I (p.Leu10Ile) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD 21-44286034-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.43
- MetaLR 0.83
- MetaSVM 0.60
- CADD 12.70
- PolyPhen-2 0.41
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available