A19A (p.Ala19Ala) variant of IL18R1 (Interleukin-18 receptor 1)
A19A (p.Ala19Ala) in IL18R1 (Interleukin-18 receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs1359392744
- gnomAD 2-102362717-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available