H14Q (p.His14Gln) variant of AIRE (Autoimmune regulator)
H14Q (p.His14Gln) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H14Q (p.His14Gln) variant details
- p.His14Gln
- gnomAD 21-44286048-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.52
- MetaLR 0.69
- MetaSVM 0.20
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available