T52N (p.Thr52Asn) variant of IL12B (Interleukin-12 subunit beta)
T52N (p.Thr52Asn) in IL12B (Interleukin-12 subunit beta) 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 0.25 / 1. The record also includes population frequency data and structural context.
T52N (p.Thr52Asn) variant details
- p.Thr52Asn
- rs140131034
- ESP rs140131034
- TOPMed rs140131034
- gnomAD rs140131034
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -1.04
- CADD 23.10
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available