p.Met1 Ala2insAspTyrLysAspAspAsp variant of AIRE (Autoimmune regulator)
p.Met1 Ala2insAspTyrLysAspAspAsp 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.
p.Met1 Ala2insAspTyrLysAspAspAsp variant details
- gnomAD 21-44286008-T-TGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 5.30
- Population evidence available
- Structural context available
- Literature evidence available