T3K (p.Thr3Lys) variant of AIRE (Autoimmune regulator)
T3K (p.Thr3Lys) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T3K (p.Thr3Lys) variant details
- p.Thr3Lys
- gnomAD 21-44286014-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- MetaLR 0.48
- MetaSVM -0.53
- CADD 3.11
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available