CYBB p.Val123fs
c.367del · VCV4949662
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CYBB-related disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.93 | GERP 0.42, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CYBB
- Protein
- p.Val123fs
- Coding
- c.367del
- MANE Select
- NM_000397
- Type
- Deletion
- Location
- chrX:37793694 (GRCh38)
- Structure
- AlphaFold pLDDT 90.29 · 6 PDB
- Residue 123
- an α-helix; the ferric oxidoreductase domain
Disease context
CYBB-related disorders
Similar variants
- CYBB p.Ile241fs Pathogenic ★★ same condition
- CYBB p.Val123= Likely benign ★ same residue
- CYBB c.252+5G>A Pathogenic ★★ same condition
- CYBB p.Ala156Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- CYBB p.Ala84= Pathogenic ★★ same condition
- CYBB p.Arg226Ter Pathogenic ★★ same condition
- CYBB p.Arg290Ter Pathogenic ★★ same condition
- CYBB p.Arg73Ter Pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cybb-p-val123fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown