D31N (p.Asp31Asn) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D31N (p.Asp31Asn) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sterile multifocal osteomyelitis with periostitis and pustulosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs2052769679
- ClinGen CA389455335
- NCI-TCGA Cosmic COSV5375
- cosmic curated COSV53754
- Uncertain significance
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Sterile multifocal osteomyelitis with periostitis and pustulosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available