S100L (p.Ser100Leu) variant of IL12B (Interleukin-12 subunit beta)
S100L (p.Ser100Leu) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S100L (p.Ser100Leu) variant details
- p.Ser100Leu
- rs144694601
- ClinGen CA3538851
- ClinVar RCV000813296
- 1000Genomes rs144694601
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.39
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available