G43R (p.Gly43Arg) variant of IL12B (Interleukin-12 subunit beta)
G43R (p.Gly43Arg) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs144020395
- ESP rs144020395
- ExAC rs144020395
- TOPMed rs144020395
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.59
- CADD 24.50
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available