P123S (p.Pro123Ser) variant of IL12B (Interleukin-12 subunit beta)
P123S (p.Pro123Ser) 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.
P123S (p.Pro123Ser) variant details
- p.Pro123Ser
- ExAC rs780376200
- TOPMed rs780376200
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.01
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available