H14H (p.His14His) variant of AIRE (Autoimmune regulator)
H14H (p.His14His) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H14H (p.His14His) variant details
- p.His14His
- rs2146375067
- gnomAD 21-44286048-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 10.00
- Population evidence available
- Structural context available
- Literature evidence available