R59C (p.Arg59Cys) variant of IL12RB1 (P42701)
R59C (p.Arg59Cys) 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 0.11 / 1. The record also includes population frequency data.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs865858530
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59096
- TOPMed rs865858530
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)