R56C (p.Arg56Cys) variant of NFKB1 (P19838)
R56C (p.Arg56Cys) in NFKB1 (P19838) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs1040399901
- ClinGen CA103124400
- cosmic curated COSV10455
- ClinVar RCV001368038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct… (PMID 32278790)