S43L (p.Ser43Leu) variant of IL12RB1 (P42701)
S43L (p.Ser43Leu) in IL12RB1 (P42701) 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 IL12RB1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- rs189309495
- ClinGen CA9305329
- ClinVar RCV001932205
- ClinVar RCV003987918
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)