C87F (p.Cys87Phe) variant of NFKB1 (P19838)
C87F (p.Cys87Phe) in NFKB1 (P19838) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
C87F (p.Cys87Phe) variant details
- p.Cys87Phe
- rs1387606271
- ClinGen CA357958706
- ClinVar RCV003234817
- Pathogenic
- Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.28
- MetaLR 0.15
- MetaSVM -1.01
- PolyPhen-2 0.85
- SIFT 0.30
- EVE 0.27
- ClinVar: Pathogenic (Primary ciliary dyskinesia 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)