H35Q (p.His35Gln) variant of AIRE (Autoimmune regulator)
H35Q (p.His35Gln) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H35Q (p.His35Gln) variant details
- p.His35Gln
- gnomAD rs2040478756
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.53
- MetaLR 0.84
- MetaSVM 0.72
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available