C43S (p.Cys43Ser) variant of IL18R1 (Interleukin-18 receptor 1)
C43S (p.Cys43Ser) 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.
C43S (p.Cys43Ser) variant details
- p.Cys43Ser
- gnomAD 2-102367894-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.03
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available