T49N (p.Thr49Asn) variant of IL12B (Interleukin-12 subunit beta)
T49N (p.Thr49Asn) 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 0.27 / 1. The record also includes population frequency data and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.89
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available