C3V (p.Cys3Val) variant of IL18R1 (Interleukin-18 receptor 1)
C3V (p.Cys3Val) in IL18R1 (Interleukin-18 receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C3V (p.Cys3Val) variant details
- p.Cys3Val
- rs1260873221
- gnomAD 2-102362665-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available