Y57C (p.Tyr57Cys) variant of IL18R1 (Interleukin-18 receptor 1)
Y57C (p.Tyr57Cys) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y57C (p.Tyr57Cys) variant details
- p.Tyr57Cys
- gnomAD 2-102367936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.92
- CADD 20.10
- PolyPhen-2 0.71
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available