F26L (p.Phe26Leu) variant of AIRE (Autoimmune regulator)
F26L (p.Phe26Leu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- gnomAD 21-44286082-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.84
- MetaLR 0.92
- MetaSVM 1.02
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available