L32Q (p.Leu32Gln) variant of AIRE (Autoimmune regulator)
L32Q (p.Leu32Gln) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L32Q (p.Leu32Gln) variant details
- p.Leu32Gln
- gnomAD 21-44286101-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.80
- MetaLR 0.94
- MetaSVM 1.05
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available