D51A (p.Asp51Ala) variant of IL12B (Interleukin-12 subunit beta)
D51A (p.Asp51Ala) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
D51A (p.Asp51Ala) variant details
- p.Asp51Ala
- gnomAD rs974315484
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.03
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available