T130N (p.Thr130Asn) variant of IL12RB1 (P42701)
T130N (p.Thr130Asn) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
T130N (p.Thr130Asn) variant details
- p.Thr130Asn
- TOPMed rs1189853035
- gnomAD rs1189853035
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 7.63
- PolyPhen-2 0.08
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)