L38V (p.Leu38Val) variant of IL18R1 (Interleukin-18 receptor 1)
L38V (p.Leu38Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- ExAC rs762528444
- TOPMed rs762528444
- gnomAD rs762528444
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available