K73Q (p.Lys73Gln) variant of IL12B (Interleukin-12 subunit beta)
K73Q (p.Lys73Gln) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K73Q (p.Lys73Gln) variant details
- p.Lys73Gln
- TOPMed rs1281723065
- gnomAD rs1281723065
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.85
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available