N125I (p.Asn125Ile) variant of IL12B (Interleukin-12 subunit beta)
N125I (p.Asn125Ile) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
N125I (p.Asn125Ile) variant details
- p.Asn125Ile
- TOPMed rs1161325734
- gnomAD rs1161325734
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.05
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -0.98
- CADD 16.40
- PolyPhen-2 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available