H30H (p.His30His) variant of AIRE (Autoimmune regulator)
H30H (p.His30His) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H30H (p.His30His) variant details
- p.His30His
- rs754316070
- gnomAD 21-44286096-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 7.29
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available