L7I (p.Leu7Ile) variant of AIRE (Autoimmune regulator)
L7I (p.Leu7Ile) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- gnomAD 21-44286025-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.47
- MetaLR 0.82
- MetaSVM 0.54
- CADD 22.00
- PolyPhen-2 0.69
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available