H30Q (p.His30Gln) variant of AIRE (Autoimmune regulator)
H30Q (p.His30Gln) in AIRE (Autoimmune regulator) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- ExAC rs754316070
- TOPMed rs754316070
- gnomAD rs754316070
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.47
- MetaLR 0.80
- MetaSVM 0.38
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available