A19E (p.Ala19Glu) variant of IL18R1 (Interleukin-18 receptor 1)
A19E (p.Ala19Glu) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 2-102362716-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.95
- CADD 5.42
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available