V12M (p.Val12Met) variant of IL18R1 (Interleukin-18 receptor 1)
V12M (p.Val12Met) in IL18R1 (Interleukin-18 receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- ExAC rs778597504
- TOPMed rs778597504
- gnomAD rs778597504
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0774
- REVEL 0.09
- CADD 1.45
- PolyPhen-2 0.22
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available