D119N (p.Asp119Asn) variant of IL12B (Interleukin-12 subunit beta)
D119N (p.Asp119Asn) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D119N (p.Asp119Asn) variant details
- p.Asp119Asn
- ExAC rs748791854
- TOPMed rs748791854
- gnomAD rs748791854
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.02
- CADD 20.80
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available