F26S (p.Phe26Ser) variant of AIRE (Autoimmune regulator)
F26S (p.Phe26Ser) in AIRE (Autoimmune regulator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F26S (p.Phe26Ser) variant details
- p.Phe26Ser
- gnomAD 21-44286081-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available