V33I (p.Val33Ile) variant of IL12B (Interleukin-12 subunit beta)
V33I (p.Val33Ile) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- rs3213096
- ClinGen CA3538882
- ClinVar RCV000545923
- ClinVar RCV003431112
- Benign
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.10
- CADD 8.97
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Benign (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Benign (in dbSNP:rs3213096)
- UniProt: Benign (in dbSNP:rs3213096)
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available