R59S (p.Arg59Ser) variant of IL12RB1 (P42701)
R59S (p.Arg59Ser) in IL12RB1 (P42701) 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 0.09 / 1. The record also includes population frequency data.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- rs865858530
- NCI-TCGA Cosmic COSV5909
- TOPMed rs865858530
- gnomAD rs865858530
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- CADD 1.73
- PolyPhen-2 0.00
- SIFT 0.83
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)