L11P (p.Leu11Pro) variant of AIRE (Autoimmune regulator)
L11P (p.Leu11Pro) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 21-44286038-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.89
- MetaLR 0.89
- MetaSVM 0.92
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available