L10T (p.Leu10Thr) variant of AIRE (Autoimmune regulator)
L10T (p.Leu10Thr) in AIRE (Autoimmune regulator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L10T (p.Leu10Thr) variant details
- p.Leu10Thr
- gnomAD 21-44286013-A-ACG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available