H30Y (p.His30Tyr) variant of AIRE (Autoimmune regulator)
H30Y (p.His30Tyr) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- gnomAD rs1385282121
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.69
- MetaLR 0.81
- MetaSVM 0.62
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.14
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available