S42L (p.Ser42Leu) variant of IL18R1 (Interleukin-18 receptor 1)
S42L (p.Ser42Leu) in IL18R1 (Interleukin-18 receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
S42L (p.Ser42Leu) variant details
- p.Ser42Leu
- rs917316315
- TOPMed rs917316315
- gnomAD rs917316315
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0546
- REVEL 0.03
- CADD 4.56
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available