E95K (p.Glu95Lys) variant of IL12B (Interleukin-12 subunit beta)
E95K (p.Glu95Lys) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.06 / 1. The record also includes population frequency data and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs56287471
- ClinGen CA3538855
- ClinVar RCV000652143
- ClinVar RCV003945666
- Conflicting interpretations
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.0573
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available