H47L (p.His47Leu) variant of IL18R1 (Interleukin-18 receptor 1)
H47L (p.His47Leu) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H47L (p.His47Leu) variant details
- p.His47Leu
- gnomAD 2-102367906-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -0.90
- CADD 0.15
- PolyPhen-2 0.22
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available