H35R (p.His35Arg) variant of AIRE (Autoimmune regulator)
H35R (p.His35Arg) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H35R (p.His35Arg) variant details
- p.His35Arg
- gnomAD rs1273452030
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.54
- MetaLR 0.78
- MetaSVM 0.39
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available