S74N (p.Ser74Asn) variant of IL12RB1 (P42701)
S74N (p.Ser74Asn) 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 0.65 / 1. The record also includes population frequency data.
S74N (p.Ser74Asn) variant details
- p.Ser74Asn
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59098
- Ensembl rs2146414715
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)