P53S (p.Pro53Ser) variant of IL12B (Interleukin-12 subunit beta)
P53S (p.Pro53Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- 1000Genomes rs183111978
- ExAC rs183111978
- TOPMed rs183111978
- gnomAD rs183111978
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 0.94
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available