S56F (p.Ser56Phe) variant of IL12RB1 (P42701)
S56F (p.Ser56Phe) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- cosmic curated COSV59096
- Ensembl rs990803121
- Missense
- Variant Prioritization Score for Impact Estimate 0.0956
- CADD 3.46
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the South Asian population (allele frequency 1.2e-05)