V12L (p.Val12Leu) variant of IL18R1 (Interleukin-18 receptor 1)
V12L (p.Val12Leu) in IL18R1 (Interleukin-18 receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- rs778597504
- ClinGen CA1809755
- ClinVar RCV004405069
- ExAC rs778597504
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.063
- REVEL 0.07
- CADD 0.30
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available