V111I (p.Val111Ile) variant of IL12RB1 (P42701)
V111I (p.Val111Ile) 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 0.55 / 1. The record also includes population frequency data.
V111I (p.Val111Ile) variant details
- p.Val111Ile
- rs1175476350
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10044
- gnomAD rs1175476350
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)