L13P (p.Leu13Pro) variant of AIRE (Autoimmune regulator)
L13P (p.Leu13Pro) 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 21-44286044-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.74
- MetaLR 0.83
- MetaSVM 0.67
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available