R130K (p.Arg130Lys) variant of IL12B (Interleukin-12 subunit beta)
R130K (p.Arg130Lys) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R130K (p.Arg130Lys) variant details
- p.Arg130Lys
- gnomAD rs1479334784
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available